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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: 2-98217874-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=98217874&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 98217874,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144992.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1865A>C",
"hgvs_p": "p.Lys622Thr",
"transcript": "NM_144992.5",
"protein_id": "NP_659429.4",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1865,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": "ENST00000477737.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144992.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1865A>C",
"hgvs_p": "p.Lys622Thr",
"transcript": "ENST00000477737.6",
"protein_id": "ENSP00000417955.1",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1865,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": "NM_144992.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477737.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.2071A>C",
"hgvs_p": null,
"transcript": "ENST00000409460.5",
"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": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409460.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*512A>C",
"hgvs_p": null,
"transcript": "ENST00000416277.5",
"protein_id": "ENSP00000411168.1",
"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": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416277.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*1618A>C",
"hgvs_p": null,
"transcript": "ENST00000432242.5",
"protein_id": "ENSP00000396734.1",
"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": 5324,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432242.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*211A>C",
"hgvs_p": null,
"transcript": "ENST00000433678.5",
"protein_id": "ENSP00000388158.1",
"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": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433678.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*211A>C",
"hgvs_p": null,
"transcript": "ENST00000495571.5",
"protein_id": "ENSP00000437247.1",
"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": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495571.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*512A>C",
"hgvs_p": null,
"transcript": "ENST00000416277.5",
"protein_id": "ENSP00000411168.1",
"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": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416277.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*1618A>C",
"hgvs_p": null,
"transcript": "ENST00000432242.5",
"protein_id": "ENSP00000396734.1",
"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": 5324,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432242.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*211A>C",
"hgvs_p": null,
"transcript": "ENST00000433678.5",
"protein_id": "ENSP00000388158.1",
"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": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433678.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "n.*211A>C",
"hgvs_p": null,
"transcript": "ENST00000495571.5",
"protein_id": "ENSP00000437247.1",
"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": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495571.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.836A>C",
"hgvs_p": "p.Lys279Thr",
"transcript": "NM_001345864.2",
"protein_id": "NP_001332793.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 951,
"cds_start": 836,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345864.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.95A>C",
"hgvs_p": "p.Lys32Thr",
"transcript": "ENST00000473149.5",
"protein_id": "ENSP00000436153.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 722,
"cds_start": 95,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473149.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1865A>C",
"hgvs_p": "p.Lys622Thr",
"transcript": "XM_005263897.3",
"protein_id": "XP_005263954.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1865,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263897.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1865A>C",
"hgvs_p": "p.Lys622Thr",
"transcript": "XM_011510770.2",
"protein_id": "XP_011509072.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1865,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 5013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510770.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Lys580Thr",
"transcript": "XM_011510771.3",
"protein_id": "XP_011509073.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1739,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510771.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1865A>C",
"hgvs_p": "p.Lys622Thr",
"transcript": "XM_011510772.2",
"protein_id": "XP_011509074.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1865,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 4926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510772.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1415A>C",
"hgvs_p": "p.Lys472Thr",
"transcript": "XM_047443640.1",
"protein_id": "XP_047299596.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 1162,
"cds_start": 1415,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443640.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.836A>C",
"hgvs_p": "p.Lys279Thr",
"transcript": "XM_017003561.2",
"protein_id": "XP_016859050.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 969,
"cds_start": 836,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003561.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.836A>C",
"hgvs_p": "p.Lys279Thr",
"transcript": "XM_017003562.2",
"protein_id": "XP_016859051.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 969,
"cds_start": 836,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003562.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.836A>C",
"hgvs_p": "p.Lys279Thr",
"transcript": "XM_047443641.1",
"protein_id": "XP_047299597.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 969,
"cds_start": 836,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443641.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3B",
"gene_hgnc_id": 28385,
"hgvs_c": "c.1865A>C",
"hgvs_p": "p.Lys622Thr",
"transcript": "XM_017003564.2",
"protein_id": "XP_016859053.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 950,
"cds_start": 1865,
"cds_end": null,
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{
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spinocerebellar ataxia, autosomal recessive 22",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}