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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: 5-68295418-AGGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68295418&ref=AGGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68295418,
"ref": "AGGT",
"alt": "A",
"effect": "frameshift_variant,splice_acceptor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000521381.6",
"consequences": [
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1748_1750delGGT",
"hgvs_p": "p.Trp583del",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 724,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181523.3"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521381.6"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.936-1_937delGGT",
"hgvs_p": "p.Trp313fs",
"transcript": "ENST00000336483.10",
"protein_id": "ENSP00000338554.5",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 454,
"cds_start": 936,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336483.10"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.846-1_847delGGT",
"hgvs_p": "p.Trp283fs",
"transcript": "ENST00000320694.13",
"protein_id": "ENSP00000323512.8",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 424,
"cds_start": 846,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320694.13"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.938_940delGGT",
"hgvs_p": "p.Trp313del",
"transcript": "NM_181504.4",
"protein_id": "NP_852556.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 454,
"cds_start": 938,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181504.4"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.848_850delGGT",
"hgvs_p": "p.Trp283del",
"transcript": "NM_181524.2",
"protein_id": "NP_852665.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 424,
"cds_start": 848,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181524.2"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.659_661delGGT",
"hgvs_p": "p.Trp220del",
"transcript": "NM_001242466.2",
"protein_id": "NP_001229395.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 361,
"cds_start": 659,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242466.2"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1748_1750delGGT",
"hgvs_p": "p.Trp583del",
"transcript": "XM_005248542.4",
"protein_id": "XP_005248599.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 724,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248542.4"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1748_1750delGGT",
"hgvs_p": "p.Trp583del",
"transcript": "XM_017009585.3",
"protein_id": "XP_016865074.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 724,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009585.3"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1748_1750delGGT",
"hgvs_p": "p.Trp583del",
"transcript": "XM_047417315.1",
"protein_id": "XP_047273271.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 724,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417315.1"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1421_1423delGGT",
"hgvs_p": "p.Trp474del",
"transcript": "XM_047417316.1",
"protein_id": "XP_047273272.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 615,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417316.1"
},
{
"aa_ref": "WL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1421_1423delGGT",
"hgvs_p": "p.Trp474del",
"transcript": "XM_047417317.1",
"protein_id": "XP_047273273.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 615,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417317.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 732,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697461.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000870050.1",
"protein_id": "ENSP00000540109.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 732,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870050.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517643.2"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521657.6"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697458.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000870051.1",
"protein_id": "ENSP00000540110.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870051.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000870052.1",
"protein_id": "ENSP00000540111.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870052.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs",
"transcript": "ENST00000870053.1",
"protein_id": "ENSP00000540112.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 724,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870053.1"
},
{
"aa_ref": "MW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "n.*712-1_*713delGGT",
"hgvs_p": null,
"transcript": "ENST00000697464.1",
"protein_id": "ENSP00000513322.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000697464.1"
}
],
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"dbsnp": "rs1131692243",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000521381.6",
"gene_symbol": "PIK3R1",
"hgnc_id": 8979,
"effects": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1746-1_1747delGGT",
"hgvs_p": "p.Trp583fs"
}
],
"clinvar_disease": "Vascular Malformations and Overgrowth",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Vascular Malformations and Overgrowth",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}