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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: 1-31728039-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31728039&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31728039,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001364857.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4558C>T",
"hgvs_p": "p.Arg1520Trp",
"transcript": "NM_001364857.2",
"protein_id": "NP_001351786.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4558,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373658.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364857.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4558C>T",
"hgvs_p": "p.Arg1520Trp",
"transcript": "ENST00000373658.8",
"protein_id": "ENSP00000362762.3",
"transcript_support_level": 5,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4558,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364857.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373658.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4555C>T",
"hgvs_p": "p.Arg1519Trp",
"transcript": "ENST00000373655.6",
"protein_id": "ENSP00000362759.2",
"transcript_support_level": 1,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4555,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373655.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4456C>T",
"hgvs_p": "p.Arg1486Trp",
"transcript": "ENST00000527361.5",
"protein_id": "ENSP00000435397.1",
"transcript_support_level": 1,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4456,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527361.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4555C>T",
"hgvs_p": "p.Arg1519Trp",
"transcript": "NM_001294335.2",
"protein_id": "NP_001281264.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4555,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294335.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4456C>T",
"hgvs_p": "p.Arg1486Trp",
"transcript": "NM_001294336.2",
"protein_id": "NP_001281265.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4456,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294336.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4303C>T",
"hgvs_p": "p.Arg1435Trp",
"transcript": "ENST00000398556.7",
"protein_id": "ENSP00000381564.3",
"transcript_support_level": 5,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4303,
"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": "ENST00000398556.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4558C>T",
"hgvs_p": "p.Arg1520Trp",
"transcript": "XM_017001899.2",
"protein_id": "XP_016857388.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4558,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001899.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4558C>T",
"hgvs_p": "p.Arg1520Trp",
"transcript": "XM_047426173.1",
"protein_id": "XP_047282129.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4558,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426173.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4555C>T",
"hgvs_p": "p.Arg1519Trp",
"transcript": "XM_017001900.2",
"protein_id": "XP_016857389.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4555,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001900.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4522C>T",
"hgvs_p": "p.Arg1508Trp",
"transcript": "XM_024448673.2",
"protein_id": "XP_024304441.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448673.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4489C>T",
"hgvs_p": "p.Arg1497Trp",
"transcript": "XM_017001903.2",
"protein_id": "XP_016857392.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4489,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001903.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Arg1487Trp",
"transcript": "XM_047426178.1",
"protein_id": "XP_047282134.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1552,
"cds_start": 4459,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426178.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4456C>T",
"hgvs_p": "p.Arg1486Trp",
"transcript": "XM_017001905.2",
"protein_id": "XP_016857394.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4456,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001905.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_017001908.2",
"protein_id": "XP_016857397.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001908.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_047426180.1",
"protein_id": "XP_047282136.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426180.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_047426181.1",
"protein_id": "XP_047282137.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426181.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4390C>T",
"hgvs_p": "p.Arg1464Trp",
"transcript": "XM_047426182.1",
"protein_id": "XP_047282138.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1529,
"cds_start": 4390,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426182.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "XM_017001910.2",
"protein_id": "XP_016857399.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001910.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "XM_047426186.1",
"protein_id": "XP_047282142.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426186.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4255C>T",
"hgvs_p": "p.Arg1419Trp",
"transcript": "XM_047426187.1",
"protein_id": "XP_047282143.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426187.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_017001912.2",
"protein_id": "XP_016857401.1",
"transcript_support_level": null,
"aa_start": 1410,
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{
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"BP6"
],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}