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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: 19-3577039-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3577039&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3577039,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006339.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Ala247Glu",
"transcript": "NM_006339.3",
"protein_id": "NP_006330.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 317,
"cds_start": 740,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333651.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006339.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Ala247Glu",
"transcript": "ENST00000333651.11",
"protein_id": "ENSP00000328269.6",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 317,
"cds_start": 740,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006339.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333651.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.1653C>A",
"hgvs_p": null,
"transcript": "ENST00000488973.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000488973.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Ala247Glu",
"transcript": "ENST00000888792.1",
"protein_id": "ENSP00000558851.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 317,
"cds_start": 740,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888792.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Ala247Glu",
"transcript": "ENST00000963613.1",
"protein_id": "ENSP00000633672.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 317,
"cds_start": 740,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963613.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Ala246Glu",
"transcript": "ENST00000888790.1",
"protein_id": "ENSP00000558849.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 737,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888790.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Ala246Glu",
"transcript": "ENST00000888794.1",
"protein_id": "ENSP00000558853.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 737,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888794.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Ala246Glu",
"transcript": "ENST00000921392.1",
"protein_id": "ENSP00000591451.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 737,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921392.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Ala238Glu",
"transcript": "ENST00000888798.1",
"protein_id": "ENSP00000558857.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 308,
"cds_start": 713,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888798.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Ala238Glu",
"transcript": "ENST00000888800.1",
"protein_id": "ENSP00000558859.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 308,
"cds_start": 713,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888800.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000888791.1",
"protein_id": "ENSP00000558850.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 306,
"cds_start": 707,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888791.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.791C>A",
"hgvs_p": "p.Ala264Glu",
"transcript": "ENST00000262949.7",
"protein_id": "ENSP00000262949.7",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 285,
"cds_start": 791,
"cds_end": null,
"cds_length": 859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262949.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Ala211Glu",
"transcript": "ENST00000888793.1",
"protein_id": "ENSP00000558852.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 281,
"cds_start": 632,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888793.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Ala211Glu",
"transcript": "ENST00000888799.1",
"protein_id": "ENSP00000558858.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 281,
"cds_start": 632,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888799.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Ala210Glu",
"transcript": "ENST00000888796.1",
"protein_id": "ENSP00000558855.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 280,
"cds_start": 629,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888796.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.590C>A",
"hgvs_p": "p.Ala197Glu",
"transcript": "ENST00000888795.1",
"protein_id": "ENSP00000558854.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 267,
"cds_start": 590,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888795.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Ala191Glu",
"transcript": "ENST00000963615.1",
"protein_id": "ENSP00000633674.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 261,
"cds_start": 572,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963615.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.158C>A",
"hgvs_p": "p.Ala53Glu",
"transcript": "ENST00000585900.1",
"protein_id": "ENSP00000465293.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 184,
"cds_start": 158,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585900.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Ala246Glu",
"transcript": "XM_017026144.2",
"protein_id": "XP_016881633.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 737,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.592+414C>A",
"hgvs_p": null,
"transcript": "ENST00000888797.1",
"protein_id": "ENSP00000558856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "c.589+414C>A",
"hgvs_p": null,
"transcript": "ENST00000963614.1",
"protein_id": "ENSP00000633673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963614.1"
},
{
"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": "HMG20B",
"gene_hgnc_id": 5002,
"hgvs_c": "n.155C>A",
"hgvs_p": null,
"transcript": "ENST00000461099.1",
"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": "ENST00000461099.1"
},
{
"aa_ref": null,
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
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"verdict": "Uncertain_significance",
"transcript": "NM_006339.3",
"gene_symbol": "HMG20B",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}