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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: 9-97565873-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=97565873&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMOD1",
"hgnc_id": 11871,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003275.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.167,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6336687803268433,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1080,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003275.4",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000259365.9",
"protein_coding": true,
"protein_id": "NP_003266.1",
"strand": true,
"transcript": "NM_003275.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1080,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000259365.9",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003275.4",
"protein_coding": true,
"protein_id": "ENSP00000259365.3",
"strand": true,
"transcript": "ENST00000259365.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3259,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1080,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000395211.6",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378637.2",
"strand": true,
"transcript": "ENST00000395211.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1311,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950655.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620714.1",
"strand": true,
"transcript": "ENST00000950655.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1203,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900211.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570270.1",
"strand": true,
"transcript": "ENST00000900211.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 395,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1188,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900215.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570274.1",
"strand": true,
"transcript": "ENST00000900215.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 392,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1179,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950653.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620712.1",
"strand": true,
"transcript": "ENST00000950653.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 390,
"aa_ref": "A",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1173,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900217.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570276.1",
"strand": true,
"transcript": "ENST00000900217.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1164,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950654.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620713.1",
"strand": true,
"transcript": "ENST00000950654.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1080,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001166116.2",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159588.1",
"strand": true,
"transcript": "NM_001166116.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 359,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1080,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900218.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570277.1",
"strand": true,
"transcript": "ENST00000900218.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1080,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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"exon_rank_end": null,
"feature": "ENST00000950660.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620719.1",
"strand": true,
"transcript": "ENST00000950660.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 359,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 798,
"cds_end": null,
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"cds_start": 644,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000950661.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620720.1",
"strand": true,
"transcript": "ENST00000950661.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1074,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950652.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620711.1",
"strand": true,
"transcript": "ENST00000950652.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 335,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 830,
"cds_end": null,
"cds_length": 1008,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900216.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570275.1",
"strand": true,
"transcript": "ENST00000900216.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 760,
"cds_end": null,
"cds_length": 990,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900214.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570273.1",
"strand": true,
"transcript": "ENST00000900214.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 646,
"cds_end": null,
"cds_length": 960,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950659.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ala175Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620718.1",
"strand": true,
"transcript": "ENST00000950659.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 774,
"cds_end": null,
"cds_length": 936,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950658.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620717.1",
"strand": true,
"transcript": "ENST00000950658.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 308,
"aa_ref": "A",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 706,
"cds_end": null,
"cds_length": 927,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900213.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Ala164Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570272.1",
"strand": true,
"transcript": "ENST00000900213.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 305,
"aa_ref": "A",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 680,
"cds_end": null,
"cds_length": 918,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000937335.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607394.1",
"strand": true,
"transcript": "ENST00000937335.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 232,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 524,
"cds_end": null,
"cds_length": 699,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375175.1",
"gene_hgnc_id": 11871,
"gene_symbol": "TMOD1",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364318.1",
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