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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: 20-44620391-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44620391&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44620391,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000022.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ala329Gly",
"transcript": "NM_000022.4",
"protein_id": "NP_000013.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 363,
"cds_start": 986,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372874.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000022.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ala329Gly",
"transcript": "ENST00000372874.9",
"protein_id": "ENSP00000361965.4",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 363,
"cds_start": 986,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000022.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372874.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Ala305Gly",
"transcript": "ENST00000537820.2",
"protein_id": "ENSP00000441818.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 339,
"cds_start": 914,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537820.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.596C>G",
"hgvs_p": "p.Ala199Gly",
"transcript": "ENST00000695995.1",
"protein_id": "ENSP00000512318.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 233,
"cds_start": 596,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695995.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Ala175Gly",
"transcript": "ENST00000695991.1",
"protein_id": "ENSP00000512314.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 209,
"cds_start": 524,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695991.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ala47Gly",
"transcript": "ENST00000695956.1",
"protein_id": "ENSP00000512285.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 124,
"cds_start": 140,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "n.*743C>G",
"hgvs_p": null,
"transcript": "ENST00000696038.1",
"protein_id": "ENSP00000512344.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696038.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "n.*743C>G",
"hgvs_p": null,
"transcript": "ENST00000696038.1",
"protein_id": "ENSP00000512344.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696038.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"transcript": "ENST00000696076.1",
"protein_id": "ENSP00000512375.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 441,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696076.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Ala328Gly",
"transcript": "ENST00000696017.1",
"protein_id": "ENSP00000512333.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 417,
"cds_start": 983,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696017.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ala329Gly",
"transcript": "ENST00000696080.1",
"protein_id": "ENSP00000512379.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 400,
"cds_start": 986,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696080.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Ala328Gly",
"transcript": "ENST00000696079.1",
"protein_id": "ENSP00000512378.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 399,
"cds_start": 983,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696079.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.1064C>G",
"hgvs_p": "p.Ala355Gly",
"transcript": "ENST00000695927.1",
"protein_id": "ENSP00000512270.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 389,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695927.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.1061C>G",
"hgvs_p": "p.Ala354Gly",
"transcript": "ENST00000696063.1",
"protein_id": "ENSP00000512366.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 388,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696063.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.1061C>G",
"hgvs_p": "p.Ala354Gly",
"transcript": "ENST00000696082.1",
"protein_id": "ENSP00000512380.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 388,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696082.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ala329Gly",
"transcript": "ENST00000695993.1",
"protein_id": "ENSP00000512316.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 387,
"cds_start": 986,
"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": "ENST00000695993.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Ala328Gly",
"transcript": "ENST00000696058.1",
"protein_id": "ENSP00000512361.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 386,
"cds_start": 983,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696058.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"transcript": "ENST00000696060.1",
"protein_id": "ENSP00000512363.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 386,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696060.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Ala350Gly",
"transcript": "ENST00000696062.1",
"protein_id": "ENSP00000512365.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 384,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696062.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ala329Gly",
"transcript": "ENST00000921861.1",
"protein_id": "ENSP00000591920.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 364,
"cds_start": 986,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921861.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Ala328Gly",
"transcript": "ENST00000696061.1",
"protein_id": "ENSP00000512364.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 362,
"cds_start": 983,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696061.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Ala328Gly",
"transcript": "ENST00000696078.1",
"protein_id": "ENSP00000512377.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 362,
"cds_start": 983,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696078.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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{
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
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"custom_annotations": null
}
],
"message": null
}