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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: 19-10575029-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10575029&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10575029,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001300887.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Gly350Trp",
"transcript": "NM_005498.5",
"protein_id": "NP_005489.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 423,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250244.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005498.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Gly350Trp",
"transcript": "ENST00000250244.11",
"protein_id": "ENSP00000250244.5",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 423,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005498.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250244.11"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1054G>T",
"hgvs_p": "p.Gly352Trp",
"transcript": "ENST00000590923.5",
"protein_id": "ENSP00000465685.1",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 425,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590923.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1054G>T",
"hgvs_p": "p.Gly352Trp",
"transcript": "NM_001300887.2",
"protein_id": "NP_001287816.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 425,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300887.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1042G>T",
"hgvs_p": "p.Gly348Trp",
"transcript": "ENST00000918520.1",
"protein_id": "ENSP00000588579.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 421,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918520.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Gly350Trp",
"transcript": "ENST00000918526.1",
"protein_id": "ENSP00000588585.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 418,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918526.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Gly343Trp",
"transcript": "ENST00000918530.1",
"protein_id": "ENSP00000588589.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 416,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918530.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.949G>T",
"hgvs_p": "p.Gly317Trp",
"transcript": "ENST00000918525.1",
"protein_id": "ENSP00000588584.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 390,
"cds_start": 949,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918525.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.943G>T",
"hgvs_p": "p.Gly315Trp",
"transcript": "ENST00000918522.1",
"protein_id": "ENSP00000588581.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 388,
"cds_start": 943,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918522.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Gly299Trp",
"transcript": "ENST00000918524.1",
"protein_id": "ENSP00000588583.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 372,
"cds_start": 895,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918524.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Gly297Trp",
"transcript": "ENST00000903393.1",
"protein_id": "ENSP00000573452.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 370,
"cds_start": 889,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903393.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "ENST00000918521.1",
"protein_id": "ENSP00000588580.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 350,
"cds_start": 829,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918521.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.823G>T",
"hgvs_p": "p.Gly275Trp",
"transcript": "ENST00000918528.1",
"protein_id": "ENSP00000588587.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 348,
"cds_start": 823,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918528.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Gly260Trp",
"transcript": "ENST00000918523.1",
"protein_id": "ENSP00000588582.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 333,
"cds_start": 778,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918523.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.733G>T",
"hgvs_p": "p.Gly245Trp",
"transcript": "ENST00000918529.1",
"protein_id": "ENSP00000588588.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 318,
"cds_start": 733,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918529.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.499G>T",
"hgvs_p": "p.Gly167Trp",
"transcript": "ENST00000918527.1",
"protein_id": "ENSP00000588586.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 240,
"cds_start": 499,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918527.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Gly40Trp",
"transcript": "ENST00000587069.5",
"protein_id": "ENSP00000465865.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 128,
"cds_start": 118,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587069.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.76G>T",
"hgvs_p": "p.Gly26Trp",
"transcript": "ENST00000592285.1",
"protein_id": "ENSP00000468260.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 103,
"cds_start": 76,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592285.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Gly326Trp",
"transcript": "XM_047438018.1",
"protein_id": "XP_047293974.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 399,
"cds_start": 976,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.43-9G>T",
"hgvs_p": null,
"transcript": "ENST00000918531.1",
"protein_id": "ENSP00000588590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.34-537G>T",
"hgvs_p": null,
"transcript": "ENST00000589348.1",
"protein_id": "ENSP00000465488.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": null,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589348.1"
}
],
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"dbsnp": "rs375010828",
"frequency_reference_population": 0.000015969508,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.000012585,
"gnomad_genomes_af": 0.0000460363,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8125662803649902,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.972000002861023,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.673,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.762,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.19,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999772158297584,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001300887.2",
"gene_symbol": "AP1M2",
"hgnc_id": 558,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1054G>T",
"hgvs_p": "p.Gly352Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}