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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: 5-90965429-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90965429&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90965429,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000405460.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17871G>T",
"hgvs_p": "p.Ala5957Ala",
"transcript": "NM_032119.4",
"protein_id": "NP_115495.3",
"transcript_support_level": null,
"aa_start": 5957,
"aa_end": null,
"aa_length": 6306,
"cds_start": 17871,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 17970,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "ENST00000405460.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17871G>T",
"hgvs_p": "p.Ala5957Ala",
"transcript": "ENST00000405460.9",
"protein_id": "ENSP00000384582.2",
"transcript_support_level": 1,
"aa_start": 5957,
"aa_end": null,
"aa_length": 6306,
"cds_start": 17871,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 17970,
"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": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.5138G>T",
"hgvs_p": null,
"transcript": "ENST00000638510.1",
"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": 6503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.6825G>T",
"hgvs_p": "p.Ala2275Ala",
"transcript": "ENST00000425867.3",
"protein_id": "ENSP00000392618.3",
"transcript_support_level": 5,
"aa_start": 2275,
"aa_end": null,
"aa_length": 2624,
"cds_start": 6825,
"cds_end": null,
"cds_length": 7875,
"cdna_start": 6825,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17892G>T",
"hgvs_p": "p.Ala5964Ala",
"transcript": "XM_017009963.3",
"protein_id": "XP_016865452.1",
"transcript_support_level": null,
"aa_start": 5964,
"aa_end": null,
"aa_length": 6313,
"cds_start": 17892,
"cds_end": null,
"cds_length": 18942,
"cdna_start": 17991,
"cdna_end": null,
"cdna_length": 19578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17889G>T",
"hgvs_p": "p.Ala5963Ala",
"transcript": "XM_017009964.3",
"protein_id": "XP_016865453.1",
"transcript_support_level": null,
"aa_start": 5963,
"aa_end": null,
"aa_length": 6312,
"cds_start": 17889,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 17988,
"cdna_end": null,
"cdna_length": 19575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17889G>T",
"hgvs_p": "p.Ala5963Ala",
"transcript": "XM_017009965.2",
"protein_id": "XP_016865454.1",
"transcript_support_level": null,
"aa_start": 5963,
"aa_end": null,
"aa_length": 6312,
"cds_start": 17889,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 18007,
"cdna_end": null,
"cdna_length": 19594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17868G>T",
"hgvs_p": "p.Ala5956Ala",
"transcript": "XM_047417824.1",
"protein_id": "XP_047273780.1",
"transcript_support_level": null,
"aa_start": 5956,
"aa_end": null,
"aa_length": 6305,
"cds_start": 17868,
"cds_end": null,
"cds_length": 18918,
"cdna_start": 17967,
"cdna_end": null,
"cdna_length": 19554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17811G>T",
"hgvs_p": "p.Ala5937Ala",
"transcript": "XM_017009966.3",
"protein_id": "XP_016865455.1",
"transcript_support_level": null,
"aa_start": 5937,
"aa_end": null,
"aa_length": 6286,
"cds_start": 17811,
"cds_end": null,
"cds_length": 18861,
"cdna_start": 17910,
"cdna_end": null,
"cdna_length": 19497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17796G>T",
"hgvs_p": "p.Ala5932Ala",
"transcript": "XM_017009967.2",
"protein_id": "XP_016865456.1",
"transcript_support_level": null,
"aa_start": 5932,
"aa_end": null,
"aa_length": 6281,
"cds_start": 17796,
"cds_end": null,
"cds_length": 18846,
"cdna_start": 17895,
"cdna_end": null,
"cdna_length": 19482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17712G>T",
"hgvs_p": "p.Ala5904Ala",
"transcript": "XM_017009968.3",
"protein_id": "XP_016865457.1",
"transcript_support_level": null,
"aa_start": 5904,
"aa_end": null,
"aa_length": 6253,
"cds_start": 17712,
"cds_end": null,
"cds_length": 18762,
"cdna_start": 17811,
"cdna_end": null,
"cdna_length": 19398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17892G>T",
"hgvs_p": "p.Ala5964Ala",
"transcript": "XM_017009969.3",
"protein_id": "XP_016865458.1",
"transcript_support_level": null,
"aa_start": 5964,
"aa_end": null,
"aa_length": 6171,
"cds_start": 17892,
"cds_end": null,
"cds_length": 18516,
"cdna_start": 17991,
"cdna_end": null,
"cdna_length": 19208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.11010G>T",
"hgvs_p": "p.Ala3670Ala",
"transcript": "XM_017009972.2",
"protein_id": "XP_016865461.1",
"transcript_support_level": null,
"aa_start": 3670,
"aa_end": null,
"aa_length": 4019,
"cds_start": 11010,
"cds_end": null,
"cds_length": 12060,
"cdna_start": 11097,
"cdna_end": null,
"cdna_length": 12684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.10989G>T",
"hgvs_p": "p.Ala3663Ala",
"transcript": "XM_017009973.2",
"protein_id": "XP_016865462.1",
"transcript_support_level": null,
"aa_start": 3663,
"aa_end": null,
"aa_length": 4012,
"cds_start": 10989,
"cds_end": null,
"cds_length": 12039,
"cdna_start": 11083,
"cdna_end": null,
"cdna_length": 12670,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*842G>T",
"hgvs_p": null,
"transcript": "ENST00000638990.1",
"protein_id": "ENSP00000492781.1",
"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": 2433,
"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": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*1503G>T",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
"protein_id": "ENSP00000491425.1",
"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": 5673,
"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": 84,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.17887G>T",
"hgvs_p": null,
"transcript": "NR_003149.2",
"protein_id": null,
"transcript_support_level": null,
"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": 19474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.-46G>T",
"hgvs_p": null,
"transcript": "ENST00000640815.1",
"protein_id": "ENSP00000491767.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.-46G>T",
"hgvs_p": null,
"transcript": "ENST00000639821.1",
"protein_id": "ENSP00000492216.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.-46G>T",
"hgvs_p": null,
"transcript": "ENST00000640369.1",
"protein_id": "ENSP00000491401.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.-46G>T",
"hgvs_p": null,
"transcript": "ENST00000639707.1",
"protein_id": "ENSP00000492328.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*842G>T",
"hgvs_p": null,
"transcript": "ENST00000638990.1",
"protein_id": "ENSP00000492781.1",
"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": 2433,
"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": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*1503G>T",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5673,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.266-19915G>T",
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"transcript": "ENST00000639431.1",
"protein_id": "ENSP00000491057.1",
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"cds_start": -4,
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"cdna_length": 611,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"dbsnp": "rs373800116",
"frequency_reference_population": 0.0000020588586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205886,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.551,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000405460.9",
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.17871G>T",
"hgvs_p": "p.Ala5957Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}