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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: 2-32204686-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32204686&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32204686,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001193513.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.762A>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "NM_017964.5",
"protein_id": "NP_060434.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 461,
"cds_start": 762,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282587.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017964.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.762A>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "ENST00000282587.9",
"protein_id": "ENSP00000282587.5",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 461,
"cds_start": 762,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017964.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282587.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Leu294Phe",
"transcript": "ENST00000379343.6",
"protein_id": "ENSP00000368648.2",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 501,
"cds_start": 882,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379343.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.762A>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "ENST00000435660.5",
"protein_id": "ENSP00000399005.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 438,
"cds_start": 762,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435660.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.540A>C",
"hgvs_p": "p.Leu180Phe",
"transcript": "ENST00000406369.2",
"protein_id": "ENSP00000384041.1",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 387,
"cds_start": 540,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406369.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Leu294Phe",
"transcript": "NM_001193513.3",
"protein_id": "NP_001180442.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 501,
"cds_start": 882,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193513.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.816A>C",
"hgvs_p": "p.Leu272Phe",
"transcript": "ENST00000866171.1",
"protein_id": "ENSP00000536230.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 479,
"cds_start": 816,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866171.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.837A>C",
"hgvs_p": "p.Leu279Phe",
"transcript": "ENST00000954367.1",
"protein_id": "ENSP00000624426.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 447,
"cds_start": 837,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954367.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.762A>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "ENST00000866170.1",
"protein_id": "ENSP00000536229.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 445,
"cds_start": 762,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866170.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.696A>C",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000911305.1",
"protein_id": "ENSP00000581364.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 439,
"cds_start": 696,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911305.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.762A>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "NM_001193514.3",
"protein_id": "NP_001180443.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 438,
"cds_start": 762,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193514.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.675A>C",
"hgvs_p": "p.Leu225Phe",
"transcript": "NM_001193515.3",
"protein_id": "NP_001180444.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 432,
"cds_start": 675,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193515.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.675A>C",
"hgvs_p": "p.Leu225Phe",
"transcript": "ENST00000357055.7",
"protein_id": "ENSP00000349563.4",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 432,
"cds_start": 675,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357055.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.762A>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "ENST00000911306.1",
"protein_id": "ENSP00000581365.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 422,
"cds_start": 762,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911306.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.696A>C",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000911307.1",
"protein_id": "ENSP00000581366.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 416,
"cds_start": 696,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911307.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.615A>C",
"hgvs_p": "p.Leu205Phe",
"transcript": "NM_001330479.2",
"protein_id": "NP_001317408.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 412,
"cds_start": 615,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330479.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.540A>C",
"hgvs_p": "p.Leu180Phe",
"transcript": "NM_001330476.2",
"protein_id": "NP_001317405.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 387,
"cds_start": 540,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330476.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.498A>C",
"hgvs_p": "p.Leu166Phe",
"transcript": "ENST00000911308.1",
"protein_id": "ENSP00000581367.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 334,
"cds_start": 498,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911308.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Leu57Phe",
"transcript": "NM_001330477.2",
"protein_id": "NP_001317406.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 264,
"cds_start": 171,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330477.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.171A>C",
"hgvs_p": "p.Leu57Phe",
"transcript": "NM_001330478.2",
"protein_id": "NP_001317407.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 264,
"cds_start": 171,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330478.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Leu294Phe",
"transcript": "XM_011532959.4",
"protein_id": "XP_011531261.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 478,
"cds_start": 882,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532959.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "XM_047444944.1",
"protein_id": "XP_047300900.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 452,
"cds_start": 735,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
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"cdna_length": null,
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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": "SLC30A6",
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"dbsnp": "rs376875798",
"frequency_reference_population": 0.000038829163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.000040141,
"gnomad_genomes_af": 0.0000263453,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9222322106361389,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.738,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.978,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.15,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001193513.3",
"gene_symbol": "SLC30A6",
"hgnc_id": 19305,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Leu294Phe"
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],
"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
}