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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: 10-73799017-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73799017&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73799017,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001242488.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4192G>C",
"hgvs_p": "p.Glu1398Gln",
"transcript": "NM_001367799.1",
"protein_id": "NP_001354728.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1834,
"cds_start": 4192,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000604729.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367799.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4192G>C",
"hgvs_p": "p.Glu1398Gln",
"transcript": "ENST00000604729.6",
"protein_id": "ENSP00000474944.1",
"transcript_support_level": 5,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1834,
"cds_start": 4192,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367799.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604729.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4177G>C",
"hgvs_p": "p.Glu1393Gln",
"transcript": "ENST00000605216.5",
"protein_id": "ENSP00000474748.1",
"transcript_support_level": 1,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1837,
"cds_start": 4177,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605216.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.2194G>C",
"hgvs_p": "p.Glu732Gln",
"transcript": "ENST00000603187.5",
"protein_id": "ENSP00000474766.1",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2194,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603187.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.1993G>C",
"hgvs_p": "p.Glu665Gln",
"transcript": "ENST00000604754.1",
"protein_id": "ENSP00000474118.1",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1993,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "n.*164G>C",
"hgvs_p": null,
"transcript": "ENST00000492395.5",
"protein_id": "ENSP00000432423.1",
"transcript_support_level": 1,
"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": "ENST00000492395.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "n.*164G>C",
"hgvs_p": null,
"transcript": "ENST00000492395.5",
"protein_id": "ENSP00000432423.1",
"transcript_support_level": 1,
"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": "ENST00000492395.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8-AS1",
"gene_hgnc_id": 45103,
"hgvs_c": "n.118-929C>G",
"hgvs_p": null,
"transcript": "ENST00000456638.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000456638.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272916",
"gene_hgnc_id": null,
"hgvs_c": "n.*1433-958C>G",
"hgvs_p": null,
"transcript": "ENST00000603027.5",
"protein_id": "ENSP00000475031.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603027.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4177G>C",
"hgvs_p": "p.Glu1393Gln",
"transcript": "NM_001242488.2",
"protein_id": "NP_001229417.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1892,
"cds_start": 4177,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242488.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4192G>C",
"hgvs_p": "p.Glu1398Gln",
"transcript": "NM_015037.4",
"protein_id": "NP_055852.2",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1842,
"cds_start": 4192,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015037.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4192G>C",
"hgvs_p": "p.Glu1398Gln",
"transcript": "ENST00000398706.6",
"protein_id": "ENSP00000381693.2",
"transcript_support_level": 2,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1842,
"cds_start": 4192,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398706.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4177G>C",
"hgvs_p": "p.Glu1393Gln",
"transcript": "NM_001242487.2",
"protein_id": "NP_001229416.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1837,
"cds_start": 4177,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242487.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4078G>C",
"hgvs_p": "p.Glu1360Gln",
"transcript": "ENST00000603114.5",
"protein_id": "ENSP00000474043.1",
"transcript_support_level": 5,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4078,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603114.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4177G>C",
"hgvs_p": "p.Glu1393Gln",
"transcript": "ENST00000604524.5",
"protein_id": "ENSP00000474348.1",
"transcript_support_level": 5,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4177,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604524.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.1999G>C",
"hgvs_p": "p.Glu667Gln",
"transcript": "ENST00000412198.5",
"protein_id": "ENSP00000415612.1",
"transcript_support_level": 2,
"aa_start": 667,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1999,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412198.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4192G>C",
"hgvs_p": "p.Glu1398Gln",
"transcript": "XM_005269648.3",
"protein_id": "XP_005269705.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1905,
"cds_start": 4192,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269648.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4177G>C",
"hgvs_p": "p.Glu1393Gln",
"transcript": "XM_017015978.2",
"protein_id": "XP_016871467.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1900,
"cds_start": 4177,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015978.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4171G>C",
"hgvs_p": "p.Glu1391Gln",
"transcript": "XM_047424860.1",
"protein_id": "XP_047280816.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1898,
"cds_start": 4171,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424860.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4171G>C",
"hgvs_p": "p.Glu1391Gln",
"transcript": "XM_047424861.1",
"protein_id": "XP_047280817.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4171,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424861.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4090G>C",
"hgvs_p": "p.Glu1364Gln",
"transcript": "XM_047424862.1",
"protein_id": "XP_047280818.1",
"transcript_support_level": null,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1871,
"cds_start": 4090,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424862.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSWIM8",
"gene_hgnc_id": 23528,
"hgvs_c": "c.4075G>C",
"hgvs_p": "p.Glu1359Gln",
"transcript": "XM_047424863.1",
"protein_id": "XP_047280819.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1866,
"cds_start": 4075,
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"verdict": "Uncertain_significance",
"transcript": "NM_001242488.2",
"gene_symbol": "ZSWIM8",
"hgnc_id": 23528,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4177G>C",
"hgvs_p": "p.Glu1393Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000603027.5",
"gene_symbol": "ENSG00000272916",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1433-958C>G",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_182657.1",
"gene_symbol": "NDST2-ZSWIM8-AS1",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.6976C>G",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000456638.2",
"gene_symbol": "ZSWIM8-AS1",
"hgnc_id": 45103,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.118-929C>G",
"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
}