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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: 7-151118609-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151118609&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151118609,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_031946.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "NM_031946.7",
"protein_id": "NP_114152.3",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 911,
"cds_start": 946,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397238.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031946.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000397238.7",
"protein_id": "ENSP00000380413.2",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 911,
"cds_start": 946,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031946.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397238.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "ENST00000335367.7",
"protein_id": "ENSP00000335589.3",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 576,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335367.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000473312.5",
"protein_id": "ENSP00000418921.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 396,
"cds_start": 946,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473312.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000961568.1",
"protein_id": "ENSP00000631627.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 973,
"cds_start": 946,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961568.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "NM_001350102.2",
"protein_id": "NP_001337031.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 808,
"cds_start": 946,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350102.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Ile191Val",
"transcript": "ENST00000961567.1",
"protein_id": "ENSP00000631626.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 786,
"cds_start": 571,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961567.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000961566.1",
"protein_id": "ENSP00000631625.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 755,
"cds_start": 946,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961566.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "NM_001281300.2",
"protein_id": "NP_001268229.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 580,
"cds_start": 262,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281300.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "ENST00000463381.5",
"protein_id": "ENSP00000418016.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 580,
"cds_start": 262,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463381.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "NM_001308305.2",
"protein_id": "NP_001295234.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 576,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308305.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "NM_001042535.4",
"protein_id": "NP_001036000.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 396,
"cds_start": 946,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042535.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "NM_001308304.2",
"protein_id": "NP_001295233.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 343,
"cds_start": 946,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308304.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000479901.5",
"protein_id": "ENSP00000418125.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 343,
"cds_start": 946,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479901.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.241A>G",
"hgvs_p": "p.Ile81Val",
"transcript": "ENST00000468796.1",
"protein_id": "ENSP00000418159.1",
"transcript_support_level": 4,
"aa_start": 81,
"aa_end": null,
"aa_length": 177,
"cds_start": 241,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468796.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "XM_047419866.1",
"protein_id": "XP_047275822.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419866.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "XM_047419867.1",
"protein_id": "XP_047275823.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1486,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419867.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "XM_047419868.1",
"protein_id": "XP_047275824.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 988,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419868.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "XM_047419870.1",
"protein_id": "XP_047275826.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 854,
"cds_start": 946,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419870.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "XM_047419871.1",
"protein_id": "XP_047275827.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 688,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419871.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "XM_011515780.3",
"protein_id": "XP_011514082.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 683,
"cds_start": 262,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515780.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "XM_047419869.1",
"protein_id": "XP_047275825.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 683,
"cds_start": 262,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"splice_prediction_selected": "Benign",
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{
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}