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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-3144641-AAGTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3144641&ref=AAGTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 3144641,
"ref": "AAGTT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_182916.3",
"consequences": [
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "NM_182916.3",
"protein_id": "NP_886552.3",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": "ENST00000251607.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "ENST00000251607.11",
"protein_id": "ENSP00000251607.6",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": "NM_182916.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "ENST00000280591.10",
"protein_id": "ENSP00000280591.6",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 414,
"cds_start": 542,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.659_662delTTAG",
"hgvs_p": "p.Val220fs",
"transcript": "ENST00000698413.1",
"protein_id": "ENSP00000513706.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 473,
"cds_start": 659,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.659_662delTTAG",
"hgvs_p": "p.Val220fs",
"transcript": "ENST00000698414.1",
"protein_id": "ENSP00000513707.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 473,
"cds_start": 659,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "NM_001367321.1",
"protein_id": "NP_001354250.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "NM_001367322.1",
"protein_id": "NP_001354251.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "NM_001367323.1",
"protein_id": "NP_001354252.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "ENST00000698406.1",
"protein_id": "ENSP00000513700.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "ENST00000698412.1",
"protein_id": "ENSP00000513705.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 7518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "NM_001302946.2",
"protein_id": "NP_001289875.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 414,
"cds_start": 542,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "XM_047448240.1",
"protein_id": "XP_047304196.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs",
"transcript": "XM_047448241.1",
"protein_id": "XP_047304197.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 434,
"cds_start": 542,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.542_545delTTAG",
"hgvs_p": null,
"transcript": "ENST00000434583.5",
"protein_id": "ENSP00000415100.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.*192_*195delTTAG",
"hgvs_p": null,
"transcript": "ENST00000650755.1",
"protein_id": "ENSP00000499122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.*13_*16delTTAG",
"hgvs_p": null,
"transcript": "ENST00000650814.1",
"protein_id": "ENSP00000499120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.542_545delTTAG",
"hgvs_p": null,
"transcript": "ENST00000650839.1",
"protein_id": "ENSP00000498970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.283_286delTTAG",
"hgvs_p": null,
"transcript": "ENST00000650989.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.542_545delTTAG",
"hgvs_p": null,
"transcript": "ENST00000651093.1",
"protein_id": "ENSP00000498942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1113,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.*81_*84delTTAG",
"hgvs_p": null,
"transcript": "ENST00000651316.1",
"protein_id": "ENSP00000498787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.*13_*16delTTAG",
"hgvs_p": null,
"transcript": "ENST00000651352.1",
"protein_id": "ENSP00000498449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.*466_*469delTTAG",
"hgvs_p": null,
"transcript": "ENST00000651591.1",
"protein_id": "ENSP00000498240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "n.*95_*98delTTAG",
"hgvs_p": null,
"transcript": "ENST00000652340.1",
"protein_id": "ENSP00000498624.1",
"transcript_support_level": null,
"aa_start": null,
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{
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{
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}
],
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"dbsnp": "rs769317780",
"frequency_reference_population": 0.000030259056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000292874,
"gnomad_genomes_af": 0.0000394115,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.838,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_182916.3",
"gene_symbol": "TRNT1",
"hgnc_id": 17341,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.542_545delTTAG",
"hgvs_p": "p.Val181fs"
},
{
"score": 9,
"benign_score": 1,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong",
"BS1_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000639284.1",
"gene_symbol": "CRBN",
"hgnc_id": 30185,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*693_*696delAACT",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,Inborn genetic diseases,Retinal dystrophy,TRNT1-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:2",
"phenotype_combined": "not provided|Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome|Retinal dystrophy|TRNT1-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}