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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: 7-151128598-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151128598&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151128598,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031946.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1240A>C",
"hgvs_p": "p.Ser414Arg",
"transcript": "NM_031946.7",
"protein_id": "NP_114152.3",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 911,
"cds_start": 1240,
"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": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1240A>C",
"hgvs_p": "p.Ser414Arg",
"transcript": "ENST00000397238.7",
"protein_id": "ENSP00000380413.2",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 911,
"cds_start": 1240,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1426A>C",
"hgvs_p": "p.Ser476Arg",
"transcript": "ENST00000961568.1",
"protein_id": "ENSP00000631627.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 973,
"cds_start": 1426,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1240A>C",
"hgvs_p": "p.Ser414Arg",
"transcript": "NM_001350102.2",
"protein_id": "NP_001337031.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 808,
"cds_start": 1240,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.865A>C",
"hgvs_p": "p.Ser289Arg",
"transcript": "ENST00000961567.1",
"protein_id": "ENSP00000631626.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 786,
"cds_start": 865,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1081A>C",
"hgvs_p": "p.Ser361Arg",
"transcript": "ENST00000961566.1",
"protein_id": "ENSP00000631625.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 755,
"cds_start": 1081,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Ser186Arg",
"transcript": "NM_001281300.2",
"protein_id": "NP_001268229.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 580,
"cds_start": 556,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Ser186Arg",
"transcript": "ENST00000463381.5",
"protein_id": "ENSP00000418016.1",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 580,
"cds_start": 556,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "NM_001350103.2",
"protein_id": "NP_001337032.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 565,
"cds_start": 202,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350103.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "NM_001350104.2",
"protein_id": "NP_001337033.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 462,
"cds_start": 202,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350104.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Ser594Arg",
"transcript": "XM_047419866.1",
"protein_id": "XP_047275822.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1780,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Ser594Arg",
"transcript": "XM_047419867.1",
"protein_id": "XP_047275823.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1780,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Ser594Arg",
"transcript": "XM_047419868.1",
"protein_id": "XP_047275824.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 988,
"cds_start": 1780,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1240A>C",
"hgvs_p": "p.Ser414Arg",
"transcript": "XM_047419870.1",
"protein_id": "XP_047275826.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 854,
"cds_start": 1240,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Ser594Arg",
"transcript": "XM_047419871.1",
"protein_id": "XP_047275827.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 688,
"cds_start": 1780,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Ser186Arg",
"transcript": "XM_011515780.3",
"protein_id": "XP_011514082.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 683,
"cds_start": 556,
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Ser186Arg",
"transcript": "XM_047419869.1",
"protein_id": "XP_047275825.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 683,
"cds_start": 556,
"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_047419869.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Ser594Arg",
"transcript": "XM_047419872.1",
"protein_id": "XP_047275828.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 681,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "n.22A>C",
"hgvs_p": null,
"transcript": "ENST00000478320.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000478320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "n.3A>C",
"hgvs_p": null,
"transcript": "ENST00000483971.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000483971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "n.284A>C",
"hgvs_p": null,
"transcript": "ENST00000485904.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000485904.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "n.266A>C",
"hgvs_p": null,
"transcript": "ENST00000494808.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000494808.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "n.1913A>C",
"hgvs_p": null,
"transcript": "XR_007059984.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007059984.1"
}
],
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"dbsnp": "rs754328076",
"frequency_reference_population": 0.00000805655,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000615796,
"gnomad_genomes_af": 0.0000263037,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9016842842102051,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.805,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9954,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.249,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031946.7",
"gene_symbol": "AGAP3",
"hgnc_id": 16923,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1240A>C",
"hgvs_p": "p.Ser414Arg"
}
],
"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
}