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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: 1-19683393-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19683393&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TMCO4",
"hgnc_id": 27393,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_181719.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.2327,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "1",
"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": 0.6594222784042358,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_181719.7",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294543.11",
"protein_coding": true,
"protein_id": "NP_859070.3",
"strand": false,
"transcript": "NM_181719.7",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000294543.11",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181719.7",
"protein_coding": true,
"protein_id": "ENSP00000294543.6",
"strand": false,
"transcript": "ENST00000294543.11",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 580,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000375127.5",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364269.1",
"strand": false,
"transcript": "ENST00000375127.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001349112.3",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336041.1",
"strand": false,
"transcript": "NM_001349112.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001349113.3",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336042.1",
"strand": false,
"transcript": "NM_001349113.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001349114.3",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336043.1",
"strand": false,
"transcript": "NM_001349114.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000866952.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537011.1",
"strand": false,
"transcript": "ENST00000866952.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866953.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537012.1",
"strand": false,
"transcript": "ENST00000866953.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866954.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537013.1",
"strand": false,
"transcript": "ENST00000866954.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866955.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537014.1",
"strand": false,
"transcript": "ENST00000866955.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866956.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537015.1",
"strand": false,
"transcript": "ENST00000866956.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866957.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537016.1",
"strand": false,
"transcript": "ENST00000866957.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 634,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866958.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537017.1",
"strand": false,
"transcript": "ENST00000866958.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866959.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537018.1",
"strand": false,
"transcript": "ENST00000866959.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 2090,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000866960.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537019.1",
"strand": false,
"transcript": "ENST00000866960.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866961.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537020.1",
"strand": false,
"transcript": "ENST00000866961.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866962.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537021.1",
"strand": false,
"transcript": "ENST00000866962.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000866963.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537022.1",
"strand": false,
"transcript": "ENST00000866963.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866964.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537023.1",
"strand": false,
"transcript": "ENST00000866964.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866965.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537024.1",
"strand": false,
"transcript": "ENST00000866965.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866966.1",
"gene_hgnc_id": 27393,
"gene_symbol": "TMCO4",
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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