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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: 6-31639162-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31639162&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31639162,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001388012.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "NM_001387994.1",
"protein_id": "NP_001374923.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676615.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387994.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "ENST00000676615.2",
"protein_id": "ENSP00000502941.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387994.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676615.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3350A>G",
"hgvs_p": "p.Asn1117Ser",
"transcript": "ENST00000211379.9",
"protein_id": "ENSP00000211379.5",
"transcript_support_level": 1,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000211379.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3350A>G",
"hgvs_p": "p.Asn1117Ser",
"transcript": "ENST00000375976.8",
"protein_id": "ENSP00000365143.4",
"transcript_support_level": 1,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375976.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Asn1091Ser",
"transcript": "ENST00000375964.11",
"protein_id": "ENSP00000365131.6",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375964.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Asn1189Ser",
"transcript": "ENST00000888860.1",
"protein_id": "ENSP00000558919.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888860.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Asn1168Ser",
"transcript": "ENST00000921988.1",
"protein_id": "ENSP00000592047.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921988.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3491A>G",
"hgvs_p": "p.Asn1164Ser",
"transcript": "ENST00000676571.1",
"protein_id": "ENSP00000504005.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676571.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3491A>G",
"hgvs_p": "p.Asn1164Ser",
"transcript": "ENST00000888849.1",
"protein_id": "ENSP00000558908.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888849.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3491A>G",
"hgvs_p": "p.Asn1164Ser",
"transcript": "ENST00000921978.1",
"protein_id": "ENSP00000592037.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921978.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3488A>G",
"hgvs_p": "p.Asn1163Ser",
"transcript": "ENST00000921981.1",
"protein_id": "ENSP00000592040.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921981.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"transcript": "NM_001388012.1",
"protein_id": "NP_001374941.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388012.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"transcript": "ENST00000888817.1",
"protein_id": "ENSP00000558876.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888817.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"transcript": "ENST00000888847.1",
"protein_id": "ENSP00000558906.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888847.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3464A>G",
"hgvs_p": "p.Asn1155Ser",
"transcript": "ENST00000888855.1",
"protein_id": "ENSP00000558914.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3464,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888855.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "NM_001387989.1",
"protein_id": "NP_001374918.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387989.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "NM_001387996.1",
"protein_id": "NP_001374925.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387996.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "NM_001388011.1",
"protein_id": "NP_001374940.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388011.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "NM_001388020.1",
"protein_id": "NP_001374949.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388020.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "ENST00000888826.1",
"protein_id": "ENSP00000558885.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888826.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"transcript": "ENST00000888845.1",
"protein_id": "ENSP00000558904.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888845.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3455A>G",
"hgvs_p": "p.Asn1152Ser",
"transcript": "NM_001387988.1",
"protein_id": "NP_001374917.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": 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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{
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{
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{
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"consequences": [
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],
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],
"gene_symbol": "BAG6",
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"dbsnp": "rs200090506",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 125,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14375600218772888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.0948,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.709,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001388012.1",
"gene_symbol": "BAG6",
"hgnc_id": 13919,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser"
}
],
"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
}