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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: 17-42494785-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42494785&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42494785,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000343619.9",
"consequences": [
{
"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": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "NM_001130021.3",
"protein_id": "NP_001123493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": "ENST00000343619.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "ENST00000343619.9",
"protein_id": "ENSP00000342951.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": "NM_001130021.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1336-249G>T",
"hgvs_p": null,
"transcript": "ENST00000264649.10",
"protein_id": "ENSP00000264649.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 838,
"cds_start": -4,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "ENST00000393829.6",
"protein_id": "ENSP00000377415.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.253-249G>T",
"hgvs_p": null,
"transcript": "ENST00000544137.5",
"protein_id": "ENSP00000446377.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR548AT",
"gene_hgnc_id": 43517,
"hgvs_c": "n.13G>T",
"hgvs_p": null,
"transcript": "ENST00000578714.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 58,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR548AT",
"gene_hgnc_id": 43517,
"hgvs_c": "n.13G>T",
"hgvs_p": null,
"transcript": "NR_049845.1",
"protein_id": null,
"transcript_support_level": null,
"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": 58,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR548AT",
"gene_hgnc_id": 43517,
"hgvs_c": "n.13G>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_3031",
"protein_id": null,
"transcript_support_level": null,
"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": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1438-249G>T",
"hgvs_p": null,
"transcript": "NM_001378530.1",
"protein_id": "NP_001365459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 903,
"cds_start": -4,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1459-249G>T",
"hgvs_p": null,
"transcript": "NM_001378531.1",
"protein_id": "NP_001365460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1459-249G>T",
"hgvs_p": null,
"transcript": "NM_001378532.1",
"protein_id": "NP_001365461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
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"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1459-249G>T",
"hgvs_p": null,
"transcript": "ENST00000703888.1",
"protein_id": "ENSP00000515525.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1438-249G>T",
"hgvs_p": null,
"transcript": "NM_001378533.1",
"protein_id": "NP_001365462.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 878,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1438-249G>T",
"hgvs_p": null,
"transcript": "ENST00000592324.2",
"protein_id": "ENSP00000466767.2",
"transcript_support_level": 4,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1438-249G>T",
"hgvs_p": null,
"transcript": "NM_001378551.1",
"protein_id": "NP_001365480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1336-249G>T",
"hgvs_p": null,
"transcript": "NM_001378534.1",
"protein_id": "NP_001365463.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "ENST00000703902.1",
"protein_id": "ENSP00000515540.1",
"transcript_support_level": null,
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"aa_length": 865,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "NM_001378535.1",
"protein_id": "NP_001365464.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 862,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "ENST00000588138.2",
"protein_id": "ENSP00000466852.2",
"transcript_support_level": 5,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1336-249G>T",
"hgvs_p": null,
"transcript": "NM_001378522.1",
"protein_id": "NP_001365451.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1336-249G>T",
"hgvs_p": null,
"transcript": "NM_001130020.3",
"protein_id": "NP_001123492.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "ENST00000703901.1",
"protein_id": "ENSP00000515539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
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"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A1",
"gene_hgnc_id": 865,
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null,
"transcript": "NM_005177.5",
"protein_id": "NP_005168.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 831,
"cds_start": -4,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.378,
"phylop100way_prediction": "Benign",
"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,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000343619.9",
"gene_symbol": "ATP6V0A1",
"hgnc_id": 865,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1315-249G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_049845.1",
"gene_symbol": "MIR548AT",
"hgnc_id": 43517,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.13G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}