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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: 8-19823945-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19823945&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "INTS10",
"hgnc_id": 25548,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001353505.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 29,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1948,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.38685575127601624,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2133,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018142.4",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397977.8",
"protein_coding": true,
"protein_id": "NP_060612.2",
"strand": true,
"transcript": "NM_018142.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2133,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397977.8",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018142.4",
"protein_coding": true,
"protein_id": "ENSP00000381064.3",
"strand": true,
"transcript": "ENST00000397977.8",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 737,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2214,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353505.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340434.1",
"strand": true,
"transcript": "NM_001353505.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2211,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353506.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340435.1",
"strand": true,
"transcript": "NM_001353506.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2211,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353507.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340436.1",
"strand": true,
"transcript": "NM_001353507.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 735,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2208,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353508.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340437.1",
"strand": true,
"transcript": "NM_001353508.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2148,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353509.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340438.1",
"strand": true,
"transcript": "NM_001353509.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 711,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2136,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353510.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340439.1",
"strand": true,
"transcript": "NM_001353510.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 711,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 936,
"cds_end": null,
"cds_length": 2136,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884209.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554268.1",
"strand": true,
"transcript": "ENST00000884209.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2133,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884210.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554269.1",
"strand": true,
"transcript": "ENST00000884210.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 709,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2130,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884211.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554270.1",
"strand": true,
"transcript": "ENST00000884211.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 842,
"cds_end": null,
"cds_length": 2124,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884214.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554273.1",
"strand": true,
"transcript": "ENST00000884214.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 691,
"aa_ref": "T",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 940,
"cds_end": null,
"cds_length": 2076,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353511.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Thr201Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340440.1",
"strand": true,
"transcript": "NM_001353511.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 690,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 846,
"cds_end": null,
"cds_length": 2073,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884215.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554274.1",
"strand": true,
"transcript": "ENST00000884215.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 665,
"aa_ref": "T",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1998,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353512.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Thr201Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340441.1",
"strand": true,
"transcript": "NM_001353512.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 660,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1983,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884213.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554272.1",
"strand": true,
"transcript": "ENST00000884213.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 659,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1980,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884212.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554271.1",
"strand": true,
"transcript": "ENST00000884212.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 624,
"aa_ref": "T",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1875,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353513.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Thr133Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340442.1",
"strand": true,
"transcript": "NM_001353513.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 623,
"aa_ref": "T",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1872,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353514.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Thr133Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340443.1",
"strand": true,
"transcript": "NM_001353514.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 597,
"aa_ref": "T",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1794,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353515.2",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Thr133Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340444.1",
"strand": true,
"transcript": "NM_001353515.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 564,
"aa_ref": "T",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1695,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926857.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"feature": "XR_007060743.1",
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"hgvs_c": "n.859C>T",
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"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060743.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs369555554",
"effect": "missense_variant",
"frequency_reference_population": 0.000017977785,
"gene_hgnc_id": 25548,
"gene_symbol": "INTS10",
"gnomad_exomes_ac": 24,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328973,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.606,
"pos": 19823945,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.218,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001353505.2"
}
]
}