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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: 19-14151030-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14151030&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14151030,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001008701.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4253A>T",
"hgvs_p": "p.Tyr1418Phe",
"transcript": "NM_014921.5",
"protein_id": "NP_055736.2",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361434.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014921.5"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4253A>T",
"hgvs_p": "p.Tyr1418Phe",
"transcript": "ENST00000361434.8",
"protein_id": "ENSP00000355328.2",
"transcript_support_level": 1,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014921.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361434.8"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4268A>T",
"hgvs_p": "p.Tyr1423Phe",
"transcript": "ENST00000340736.10",
"protein_id": "ENSP00000340688.5",
"transcript_support_level": 1,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1474,
"cds_start": 4268,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340736.10"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRL1-AS1",
"gene_hgnc_id": 55309,
"hgvs_c": "n.80-4122T>A",
"hgvs_p": null,
"transcript": "ENST00000588387.3",
"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": "ENST00000588387.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4274A>T",
"hgvs_p": "p.Tyr1425Phe",
"transcript": "ENST00000963580.1",
"protein_id": "ENSP00000633639.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1476,
"cds_start": 4274,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963580.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4268A>T",
"hgvs_p": "p.Tyr1423Phe",
"transcript": "NM_001008701.3",
"protein_id": "NP_001008701.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1474,
"cds_start": 4268,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008701.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4253A>T",
"hgvs_p": "p.Tyr1418Phe",
"transcript": "ENST00000963581.1",
"protein_id": "ENSP00000633640.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963581.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4364A>T",
"hgvs_p": "p.Tyr1455Phe",
"transcript": "XM_017026475.2",
"protein_id": "XP_016881964.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4364,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026475.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4364A>T",
"hgvs_p": "p.Tyr1455Phe",
"transcript": "XM_017026476.2",
"protein_id": "XP_016881965.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4364,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026476.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4364A>T",
"hgvs_p": "p.Tyr1455Phe",
"transcript": "XM_024451420.2",
"protein_id": "XP_024307188.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4364,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451420.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4364A>T",
"hgvs_p": "p.Tyr1455Phe",
"transcript": "XM_047438413.1",
"protein_id": "XP_047294369.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4364,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438413.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4361A>T",
"hgvs_p": "p.Tyr1454Phe",
"transcript": "XM_011527796.3",
"protein_id": "XP_011526098.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4361,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527796.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4346A>T",
"hgvs_p": "p.Tyr1449Phe",
"transcript": "XM_011527798.3",
"protein_id": "XP_011526100.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4346,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527798.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4346A>T",
"hgvs_p": "p.Tyr1449Phe",
"transcript": "XM_047438414.1",
"protein_id": "XP_047294370.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4346,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438414.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4343A>T",
"hgvs_p": "p.Tyr1448Phe",
"transcript": "XM_017026477.2",
"protein_id": "XP_016881966.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4343,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026477.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4325A>T",
"hgvs_p": "p.Tyr1442Phe",
"transcript": "XM_005259818.4",
"protein_id": "XP_005259875.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1493,
"cds_start": 4325,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259818.4"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4325A>T",
"hgvs_p": "p.Tyr1442Phe",
"transcript": "XM_047438415.1",
"protein_id": "XP_047294371.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1493,
"cds_start": 4325,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438415.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4325A>T",
"hgvs_p": "p.Tyr1442Phe",
"transcript": "XM_047438416.1",
"protein_id": "XP_047294372.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1493,
"cds_start": 4325,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438416.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4292A>T",
"hgvs_p": "p.Tyr1431Phe",
"transcript": "XM_017026478.2",
"protein_id": "XP_016881967.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1482,
"cds_start": 4292,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026478.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4274A>T",
"hgvs_p": "p.Tyr1425Phe",
"transcript": "XM_017026479.2",
"protein_id": "XP_016881968.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1476,
"cds_start": 4274,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026479.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4253A>T",
"hgvs_p": "p.Tyr1418Phe",
"transcript": "XM_047438417.1",
"protein_id": "XP_047294373.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438417.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL1",
"gene_hgnc_id": 20973,
"hgvs_c": "c.4235A>T",
"hgvs_p": "p.Tyr1412Phe",
"transcript": "XM_047438418.1",
"protein_id": "XP_047294374.1",
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"aa_start": 1412,
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{
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"verdict": "Likely_benign",
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{
"score": 1,
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],
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}