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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: 12-84861660-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=84861660&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 84861660,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000266682.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr",
"transcript": "NM_182767.6",
"protein_id": "NP_877499.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 730,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "ENST00000266682.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr",
"transcript": "ENST00000266682.10",
"protein_id": "ENSP00000266682.5",
"transcript_support_level": 1,
"aa_start": 722,
"aa_end": null,
"aa_length": 730,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "NM_182767.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr",
"transcript": "ENST00000680963.1",
"protein_id": "ENSP00000505485.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 730,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr",
"transcript": "ENST00000681106.1",
"protein_id": "ENSP00000505789.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 730,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr",
"transcript": "ENST00000681721.1",
"protein_id": "ENSP00000505286.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 730,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.2051T>C",
"hgvs_p": "p.Met684Thr",
"transcript": "ENST00000680379.1",
"protein_id": "ENSP00000506716.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 692,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.1880T>C",
"hgvs_p": "p.Met627Thr",
"transcript": "ENST00000680469.1",
"protein_id": "ENSP00000505775.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 635,
"cds_start": 1880,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Met615Thr",
"transcript": "NM_001146335.3",
"protein_id": "NP_001139807.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 623,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Met615Thr",
"transcript": "ENST00000552192.5",
"protein_id": "ENSP00000450145.1",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 623,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.1313T>C",
"hgvs_p": "p.Met438Thr",
"transcript": "ENST00000680892.1",
"protein_id": "ENSP00000506546.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 446,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.2752T>C",
"hgvs_p": null,
"transcript": "ENST00000548267.2",
"protein_id": null,
"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": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*1720T>C",
"hgvs_p": null,
"transcript": "ENST00000679430.1",
"protein_id": "ENSP00000505934.1",
"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": 5477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.2950T>C",
"hgvs_p": null,
"transcript": "ENST00000679920.1",
"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": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*1379T>C",
"hgvs_p": null,
"transcript": "ENST00000679989.1",
"protein_id": "ENSP00000505134.1",
"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": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*1211T>C",
"hgvs_p": null,
"transcript": "ENST00000680187.1",
"protein_id": "ENSP00000506491.1",
"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": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*1036T>C",
"hgvs_p": null,
"transcript": "ENST00000680207.1",
"protein_id": "ENSP00000506161.1",
"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": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*841T>C",
"hgvs_p": null,
"transcript": "ENST00000680780.1",
"protein_id": "ENSP00000506131.1",
"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": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*633T>C",
"hgvs_p": null,
"transcript": "ENST00000681220.1",
"protein_id": "ENSP00000505062.1",
"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": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.4287T>C",
"hgvs_p": null,
"transcript": "ENST00000681418.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 6442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.760T>C",
"hgvs_p": null,
"transcript": "ENST00000681939.1",
"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": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.3807T>C",
"hgvs_p": null,
"transcript": "ENST00000681953.1",
"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": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "c.*199T>C",
"hgvs_p": null,
"transcript": "ENST00000309283.12",
"protein_id": "ENSP00000311645.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"hgvs_c": "n.*1720T>C",
"hgvs_p": null,
"transcript": "ENST00000679430.1",
"protein_id": "ENSP00000505934.1",
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},
{
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},
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},
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},
{
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},
{
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],
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"gene_symbol": "SLC6A15",
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"transcript": "ENST00000681220.1",
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}
],
"gene_symbol": "SLC6A15",
"gene_hgnc_id": 13621,
"dbsnp": "rs1870852593",
"frequency_reference_population": 6.886341e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88634e-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": 0.06775552034378052,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.1777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.347,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000266682.10",
"gene_symbol": "SLC6A15",
"hgnc_id": 13621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}