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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: 19-41888099-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41888099&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41888099,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354532.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_004706.4",
"protein_id": "NP_004697.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 912,
"cds_start": 17,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": "ENST00000354532.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000354532.8",
"protein_id": "ENSP00000346532.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 912,
"cds_start": 17,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": "NM_004706.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "ENST00000378152.8",
"protein_id": "ENSP00000367394.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 948,
"cds_start": 62,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "ENST00000337665.8",
"protein_id": "ENSP00000337261.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 927,
"cds_start": 62,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000347545.8",
"protein_id": "ENSP00000344429.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 879,
"cds_start": 17,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "n.143G>T",
"hgvs_p": null,
"transcript": "ENST00000600274.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000698932.1",
"protein_id": "ENSP00000514042.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 975,
"cds_start": 17,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000706938.1",
"protein_id": "ENSP00000516658.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 972,
"cds_start": 17,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_001396000.1",
"protein_id": "NP_001382929.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 968,
"cds_start": 17,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000599846.6",
"protein_id": "ENSP00000470715.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 968,
"cds_start": 17,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_001396006.1",
"protein_id": "NP_001382935.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 966,
"cds_start": 17,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_001396003.1",
"protein_id": "NP_001382932.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 940,
"cds_start": 17,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_001396004.1",
"protein_id": "NP_001382933.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 933,
"cds_start": 17,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "NM_199002.2",
"protein_id": "NP_945353.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 927,
"cds_start": 62,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_001396002.1",
"protein_id": "NP_001382931.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 907,
"cds_start": 17,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_198977.2",
"protein_id": "NP_945328.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
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"cds_start": 17,
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"cdna_start": 142,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "XM_047439662.1",
"protein_id": "XP_047295618.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1041,
"cds_start": 62,
"cds_end": null,
"cds_length": 3126,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "XM_047439663.1",
"protein_id": "XP_047295619.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 987,
"cds_start": 62,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "XM_047439664.1",
"protein_id": "XP_047295620.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
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"cds_start": 62,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "XM_047439665.1",
"protein_id": "XP_047295621.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 981,
"cds_start": 62,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "XM_047439666.1",
"protein_id": "XP_047295622.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 693,
"cds_start": 62,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "n.153G>T",
"hgvs_p": null,
"transcript": "ENST00000600387.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF1",
"gene_hgnc_id": 681,
"hgvs_c": "n.62G>T",
"hgvs_p": null,
"transcript": "ENST00000698933.1",
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},
{
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},
{
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}
],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.16484791040420532,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.673,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "Unknown,AR",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
"upstream_gene_variant"
],
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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
}