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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: 17-7227237-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7227237&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7227237,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004422.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Val466Met",
"transcript": "NM_004422.3",
"protein_id": "NP_004413.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 736,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000005340.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004422.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Val466Met",
"transcript": "ENST00000005340.10",
"protein_id": "ENSP00000005340.4",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 736,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004422.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000005340.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Met",
"transcript": "ENST00000951245.1",
"protein_id": "ENSP00000621304.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 758,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951245.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000930220.1",
"protein_id": "ENSP00000600279.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 754,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930220.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000930222.1",
"protein_id": "ENSP00000600281.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 754,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930222.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Val464Met",
"transcript": "ENST00000904799.1",
"protein_id": "ENSP00000574858.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 734,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904799.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Val460Met",
"transcript": "ENST00000575458.5",
"protein_id": "ENSP00000459797.1",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 730,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575458.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Met",
"transcript": "ENST00000930218.1",
"protein_id": "ENSP00000600277.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 726,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930218.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Val439Met",
"transcript": "ENST00000930219.1",
"protein_id": "ENSP00000600278.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 709,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930219.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "ENST00000951246.1",
"protein_id": "ENSP00000621305.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 700,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951246.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Val396Met",
"transcript": "ENST00000951247.1",
"protein_id": "ENSP00000621306.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 666,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951247.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Val392Met",
"transcript": "ENST00000930223.1",
"protein_id": "ENSP00000600282.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 662,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930223.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Val384Met",
"transcript": "ENST00000930221.1",
"protein_id": "ENSP00000600280.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 654,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930221.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Val119Met",
"transcript": "ENST00000575086.1",
"protein_id": "ENSP00000458465.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 298,
"cds_start": 355,
"cds_end": null,
"cds_length": 898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575086.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Val462Met",
"transcript": "XM_005256502.3",
"protein_id": "XP_005256559.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 732,
"cds_start": 1384,
"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": "XM_005256502.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Met",
"transcript": "XM_047435518.1",
"protein_id": "XP_047291474.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 634,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435518.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Val466Met",
"transcript": "XM_047435519.1",
"protein_id": "XP_047291475.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 523,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435519.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Val462Met",
"transcript": "XM_047435520.1",
"protein_id": "XP_047291476.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 519,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435520.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Met",
"transcript": "XM_047435522.1",
"protein_id": "XP_047291478.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 476,
"cds_start": 616,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "n.472G>A",
"hgvs_p": null,
"transcript": "ENST00000571745.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000571745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "n.360G>A",
"hgvs_p": null,
"transcript": "ENST00000576840.5",
"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": "ENST00000576840.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"hgvs_c": "n.*1G>A",
"hgvs_p": null,
"transcript": "ENST00000576285.1",
"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": "ENST00000576285.1"
}
],
"gene_symbol": "DVL2",
"gene_hgnc_id": 3086,
"dbsnp": "rs1237719627",
"frequency_reference_population": 0.0000034230304,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342303,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6237148642539978,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.6671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.025,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004422.3",
"gene_symbol": "DVL2",
"hgnc_id": 3086,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Val466Met"
}
],
"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
}