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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: 5-90705508-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90705508&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90705508,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000405460.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8495C>A",
"hgvs_p": "p.Ser2832*",
"transcript": "NM_032119.4",
"protein_id": "NP_115495.3",
"transcript_support_level": null,
"aa_start": 2832,
"aa_end": null,
"aa_length": 6306,
"cds_start": 8495,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 8594,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "ENST00000405460.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8495C>A",
"hgvs_p": "p.Ser2832*",
"transcript": "ENST00000405460.9",
"protein_id": "ENSP00000384582.2",
"transcript_support_level": 1,
"aa_start": 2832,
"aa_end": null,
"aa_length": 6306,
"cds_start": 8495,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 8594,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "NM_032119.4",
"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": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.1192C>A",
"hgvs_p": null,
"transcript": "ENST00000509621.1",
"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": 5211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.5786C>A",
"hgvs_p": "p.Ser1929*",
"transcript": "ENST00000640403.1",
"protein_id": "ENSP00000492531.1",
"transcript_support_level": 5,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2037,
"cds_start": 5786,
"cds_end": null,
"cds_length": 6115,
"cdna_start": 6394,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8516C>A",
"hgvs_p": "p.Ser2839*",
"transcript": "XM_017009963.3",
"protein_id": "XP_016865452.1",
"transcript_support_level": null,
"aa_start": 2839,
"aa_end": null,
"aa_length": 6313,
"cds_start": 8516,
"cds_end": null,
"cds_length": 18942,
"cdna_start": 8615,
"cdna_end": null,
"cdna_length": 19578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8513C>A",
"hgvs_p": "p.Ser2838*",
"transcript": "XM_017009964.3",
"protein_id": "XP_016865453.1",
"transcript_support_level": null,
"aa_start": 2838,
"aa_end": null,
"aa_length": 6312,
"cds_start": 8513,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 8612,
"cdna_end": null,
"cdna_length": 19575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8513C>A",
"hgvs_p": "p.Ser2838*",
"transcript": "XM_017009965.2",
"protein_id": "XP_016865454.1",
"transcript_support_level": null,
"aa_start": 2838,
"aa_end": null,
"aa_length": 6312,
"cds_start": 8513,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 8631,
"cdna_end": null,
"cdna_length": 19594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8492C>A",
"hgvs_p": "p.Ser2831*",
"transcript": "XM_047417824.1",
"protein_id": "XP_047273780.1",
"transcript_support_level": null,
"aa_start": 2831,
"aa_end": null,
"aa_length": 6305,
"cds_start": 8492,
"cds_end": null,
"cds_length": 18918,
"cdna_start": 8591,
"cdna_end": null,
"cdna_length": 19554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8435C>A",
"hgvs_p": "p.Ser2812*",
"transcript": "XM_017009966.3",
"protein_id": "XP_016865455.1",
"transcript_support_level": null,
"aa_start": 2812,
"aa_end": null,
"aa_length": 6286,
"cds_start": 8435,
"cds_end": null,
"cds_length": 18861,
"cdna_start": 8534,
"cdna_end": null,
"cdna_length": 19497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8420C>A",
"hgvs_p": "p.Ser2807*",
"transcript": "XM_017009967.2",
"protein_id": "XP_016865456.1",
"transcript_support_level": null,
"aa_start": 2807,
"aa_end": null,
"aa_length": 6281,
"cds_start": 8420,
"cds_end": null,
"cds_length": 18846,
"cdna_start": 8519,
"cdna_end": null,
"cdna_length": 19482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8516C>A",
"hgvs_p": "p.Ser2839*",
"transcript": "XM_017009968.3",
"protein_id": "XP_016865457.1",
"transcript_support_level": null,
"aa_start": 2839,
"aa_end": null,
"aa_length": 6253,
"cds_start": 8516,
"cds_end": null,
"cds_length": 18762,
"cdna_start": 8615,
"cdna_end": null,
"cdna_length": 19398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8516C>A",
"hgvs_p": "p.Ser2839*",
"transcript": "XM_017009969.3",
"protein_id": "XP_016865458.1",
"transcript_support_level": null,
"aa_start": 2839,
"aa_end": null,
"aa_length": 6171,
"cds_start": 8516,
"cds_end": null,
"cds_length": 18516,
"cdna_start": 8615,
"cdna_end": null,
"cdna_length": 19208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8516C>A",
"hgvs_p": "p.Ser2839*",
"transcript": "XM_017009970.3",
"protein_id": "XP_016865459.1",
"transcript_support_level": null,
"aa_start": 2839,
"aa_end": null,
"aa_length": 5002,
"cds_start": 8516,
"cds_end": null,
"cds_length": 15009,
"cdna_start": 8615,
"cdna_end": null,
"cdna_length": 15211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8516C>A",
"hgvs_p": "p.Ser2839*",
"transcript": "XM_017009971.3",
"protein_id": "XP_016865460.1",
"transcript_support_level": null,
"aa_start": 2839,
"aa_end": null,
"aa_length": 4963,
"cds_start": 8516,
"cds_end": null,
"cds_length": 14892,
"cdna_start": 8615,
"cdna_end": null,
"cdna_length": 16023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.1634C>A",
"hgvs_p": "p.Ser545*",
"transcript": "XM_017009972.2",
"protein_id": "XP_016865461.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 4019,
"cds_start": 1634,
"cds_end": null,
"cds_length": 12060,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 12684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Ser538*",
"transcript": "XM_017009973.2",
"protein_id": "XP_016865462.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 4012,
"cds_start": 1613,
"cds_end": null,
"cds_length": 12039,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 12670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8516C>A",
"hgvs_p": "p.Ser2839*",
"transcript": "XM_017009974.3",
"protein_id": "XP_016865463.1",
"transcript_support_level": null,
"aa_start": 2839,
"aa_end": null,
"aa_length": 3597,
"cds_start": 8516,
"cds_end": null,
"cds_length": 10794,
"cdna_start": 8615,
"cdna_end": null,
"cdna_length": 10980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8495C>A",
"hgvs_p": "p.Ser2832*",
"transcript": "XM_047417825.1",
"protein_id": "XP_047273781.1",
"transcript_support_level": null,
"aa_start": 2832,
"aa_end": null,
"aa_length": 3590,
"cds_start": 8495,
"cds_end": null,
"cds_length": 10773,
"cdna_start": 8594,
"cdna_end": null,
"cdna_length": 10980,
"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.3954C>A",
"hgvs_p": null,
"transcript": "ENST00000639473.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 6608,
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*2105C>A",
"hgvs_p": null,
"transcript": "ENST00000640012.1",
"protein_id": "ENSP00000492538.1",
"transcript_support_level": 5,
"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": 3241,
"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": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.1639C>A",
"hgvs_p": null,
"transcript": "ENST00000640374.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 5401,
"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": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*1521C>A",
"hgvs_p": null,
"transcript": "ENST00000640779.1",
"protein_id": "ENSP00000492527.1",
"transcript_support_level": 5,
"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": 4680,
"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": 37,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.8511C>A",
"hgvs_p": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
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},
{
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"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 24,
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"gene_symbol": "ADGRV1",
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"transcript": "ENST00000640779.1",
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "ADGRV1",
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"hgvs_c": "n.265+29299C>A",
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"transcript": "ENST00000639431.1",
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}
],
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"dbsnp": "rs121909761",
"frequency_reference_population": null,
"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": 0.14300000667572021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.433,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000405460.9",
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.8495C>A",
"hgvs_p": "p.Ser2832*"
}
],
"clinvar_disease": " 4, familial,Febrile seizures",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Febrile seizures, familial, 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}