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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: 1-20336445-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20336445&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20336445,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000289815.13",
"consequences": [
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "NM_001039500.3",
"protein_id": "NP_001034589.2",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 9143,
"mane_select": "ENST00000289815.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "ENST00000289815.13",
"protein_id": "ENSP00000289815.9",
"transcript_support_level": 5,
"aa_start": 634,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 9143,
"mane_select": "NM_001039500.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000525343.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "ENST00000375079.6",
"protein_id": "ENSP00000364220.1",
"transcript_support_level": 5,
"aa_start": 634,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1586A>C",
"hgvs_p": "p.Lys529Thr",
"transcript": "NM_001377531.1",
"protein_id": "NP_001364460.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 9087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_011540683.3",
"protein_id": "XP_011538985.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 9248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_011540684.3",
"protein_id": "XP_011538986.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 9418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_011540685.3",
"protein_id": "XP_011538987.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 9385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_011540688.3",
"protein_id": "XP_011538990.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 9173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1724A>C",
"hgvs_p": "p.Lys575Thr",
"transcript": "XM_011540690.3",
"protein_id": "XP_011538992.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 9071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1715A>C",
"hgvs_p": "p.Lys572Thr",
"transcript": "XM_011540691.3",
"protein_id": "XP_011538993.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1715,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 9062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_011540693.2",
"protein_id": "XP_011538995.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1280A>C",
"hgvs_p": "p.Lys427Thr",
"transcript": "XM_006710360.4",
"protein_id": "XP_006710423.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1008,
"cds_start": 1280,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 8368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_047445799.1",
"protein_id": "XP_047301755.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 931,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.953A>C",
"hgvs_p": "p.Lys318Thr",
"transcript": "XM_017000305.2",
"protein_id": "XP_016855794.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 899,
"cds_start": 953,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.881A>C",
"hgvs_p": "p.Lys294Thr",
"transcript": "XM_011540697.3",
"protein_id": "XP_011538999.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 875,
"cds_start": 881,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.881A>C",
"hgvs_p": "p.Lys294Thr",
"transcript": "XM_017000306.2",
"protein_id": "XP_016855795.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 875,
"cds_start": 881,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 8339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr",
"transcript": "XM_011540698.2",
"protein_id": "XP_011539000.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 730,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.179A>C",
"hgvs_p": null,
"transcript": "ENST00000467486.5",
"protein_id": "ENSP00000435623.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.*1170A>C",
"hgvs_p": null,
"transcript": "ENST00000473325.5",
"protein_id": "ENSP00000437095.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.*1290A>C",
"hgvs_p": null,
"transcript": "ENST00000485375.6",
"protein_id": "ENSP00000431194.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.*1170A>C",
"hgvs_p": null,
"transcript": "ENST00000473325.5",
"protein_id": "ENSP00000437095.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
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"transcript": "ENST00000485375.6",
"protein_id": "ENSP00000431194.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3776,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "VWA5B1",
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"dbsnp": "rs10916769",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07513433694839478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.1051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.106,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000289815.13",
"gene_symbol": "VWA5B1",
"hgnc_id": 26538,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1901A>C",
"hgvs_p": "p.Lys634Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}