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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: 14-24267701-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24267701&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24267701,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004581.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "NM_182836.3",
"protein_id": "NP_878256.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 567,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": "ENST00000216840.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182836.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000216840.11",
"protein_id": "ENSP00000216840.6",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 567,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": "NM_182836.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216840.11"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000399409.7",
"protein_id": "ENSP00000382341.3",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 567,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399409.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "NM_004581.5",
"protein_id": "NP_004572.3",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 567,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004581.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000876595.1",
"protein_id": "ENSP00000546654.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 567,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876595.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000876596.1",
"protein_id": "ENSP00000546655.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 558,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876596.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000876597.1",
"protein_id": "ENSP00000546656.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 558,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876597.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val",
"transcript": "ENST00000947203.1",
"protein_id": "ENSP00000617262.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 558,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947203.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Met47Val",
"transcript": "ENST00000560777.5",
"protein_id": "ENSP00000453201.1",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 176,
"cds_start": 139,
"cds_end": null,
"cds_length": 531,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560777.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "c.217A>G",
"hgvs_p": "p.Met73Val",
"transcript": "ENST00000560521.5",
"protein_id": "ENSP00000453596.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 174,
"cds_start": 217,
"cds_end": null,
"cds_length": 525,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560521.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.*41A>G",
"hgvs_p": null,
"transcript": "ENST00000558376.5",
"protein_id": "ENSP00000453207.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.442A>G",
"hgvs_p": null,
"transcript": "ENST00000558649.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558649.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.1605A>G",
"hgvs_p": null,
"transcript": "ENST00000559551.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559551.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.389A>G",
"hgvs_p": null,
"transcript": "ENST00000559850.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559850.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.*41A>G",
"hgvs_p": null,
"transcript": "ENST00000559974.5",
"protein_id": "ENSP00000453890.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559974.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.220A>G",
"hgvs_p": null,
"transcript": "ENST00000560243.5",
"protein_id": "ENSP00000453001.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560243.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.772A>G",
"hgvs_p": null,
"transcript": "ENST00000560871.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560871.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.1560A>G",
"hgvs_p": null,
"transcript": "ENST00000560998.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560998.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.8A>G",
"hgvs_p": null,
"transcript": "ENST00000561055.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.*41A>G",
"hgvs_p": null,
"transcript": "ENST00000558376.5",
"protein_id": "ENSP00000453207.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
"gene_hgnc_id": 9795,
"hgvs_c": "n.*41A>G",
"hgvs_p": null,
"transcript": "ENST00000559974.5",
"protein_id": "ENSP00000453890.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559974.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288044",
"gene_hgnc_id": null,
"hgvs_c": "n.228+1441T>C",
"hgvs_p": null,
"transcript": "ENST00000737900.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 467,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000737900.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTA",
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"hgvs_c": "n.*203A>G",
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"transcript": "ENST00000543002.5",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543002.5"
}
],
"gene_symbol": "RABGGTA",
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"dbsnp": "rs201017775",
"frequency_reference_population": 6.8508075e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85081e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3936082124710083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.4926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.37,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004581.5",
"gene_symbol": "RABGGTA",
"hgnc_id": 9795,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Met438Val"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000737900.1",
"gene_symbol": "ENSG00000288044",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.228+1441T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}