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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: 6-130441084-GA-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130441084&ref=GA&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM200A",
"hgnc_id": 21075,
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_052913.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258277.2",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296978.4",
"protein_coding": true,
"protein_id": "NP_001245206.1",
"strand": true,
"transcript": "NM_001258277.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296978.4",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258277.2",
"protein_coding": true,
"protein_id": "ENSP00000296978.3",
"strand": true,
"transcript": "ENST00000296978.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 3040,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392429.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376224.1",
"strand": true,
"transcript": "ENST00000392429.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258276.2",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245205.1",
"strand": true,
"transcript": "NM_001258276.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258278.2",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245207.1",
"strand": true,
"transcript": "NM_001258278.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5476,
"cdna_start": 3493,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_052913.3",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443145.1",
"strand": true,
"transcript": "NM_052913.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545622.5",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438928.1",
"strand": true,
"transcript": "ENST00000545622.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617887.4",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480294.1",
"strand": true,
"transcript": "ENST00000617887.4",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898610.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568669.1",
"strand": true,
"transcript": "ENST00000898610.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898611.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568670.1",
"strand": true,
"transcript": "ENST00000898611.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898612.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568671.1",
"strand": true,
"transcript": "ENST00000898612.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898613.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568672.1",
"strand": true,
"transcript": "ENST00000898613.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898614.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568673.1",
"strand": true,
"transcript": "ENST00000898614.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898615.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568674.1",
"strand": true,
"transcript": "ENST00000898615.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932435.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602494.1",
"strand": true,
"transcript": "ENST00000932435.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932436.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602495.1",
"strand": true,
"transcript": "ENST00000932436.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932437.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602496.1",
"strand": true,
"transcript": "ENST00000932437.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932438.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602497.1",
"strand": true,
"transcript": "ENST00000932438.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932439.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602498.1",
"strand": true,
"transcript": "ENST00000932439.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952523.1",
"gene_hgnc_id": 21075,
"gene_symbol": "TMEM200A",
"hgvs_c": "c.662_663delGAinsAG",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622582.1",
"strand": true,
"transcript": "ENST00000952523.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1476,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952524.1",
"gene_hgnc_id": 21075,
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