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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: 6-149789981-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149789981&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 149789981,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001252049.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "NM_001360452.2",
"protein_id": "NP_001347381.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 227,
"cds_start": 220,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000464889.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360452.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000464889.7",
"protein_id": "ENSP00000420813.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 227,
"cds_start": 220,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001360452.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464889.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000367384.8",
"protein_id": "ENSP00000356354.3",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 228,
"cds_start": 220,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367384.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000367378.6",
"protein_id": "ENSP00000356348.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 227,
"cds_start": 220,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367378.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.394G>C",
"hgvs_p": "p.Asp132His",
"transcript": "NM_001252049.1",
"protein_id": "NP_001238978.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 286,
"cds_start": 394,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252049.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.394G>C",
"hgvs_p": "p.Asp132His",
"transcript": "NM_001252053.1",
"protein_id": "NP_001238982.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 285,
"cds_start": 394,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252053.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.394G>C",
"hgvs_p": "p.Asp132His",
"transcript": "NM_005389.2",
"protein_id": "NP_005380.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 285,
"cds_start": 394,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005389.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Asp103His",
"transcript": "ENST00000863139.1",
"protein_id": "ENSP00000533198.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 256,
"cds_start": 307,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863139.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Asp103His",
"transcript": "ENST00000917505.1",
"protein_id": "ENSP00000587564.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 256,
"cds_start": 307,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917505.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Asp103His",
"transcript": "ENST00000941101.1",
"protein_id": "ENSP00000611160.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 256,
"cds_start": 307,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941101.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.289G>C",
"hgvs_p": "p.Asp97His",
"transcript": "NM_001252051.1",
"protein_id": "NP_001238980.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 250,
"cds_start": 289,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252051.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.289G>C",
"hgvs_p": "p.Asp97His",
"transcript": "ENST00000367380.9",
"protein_id": "ENSP00000356350.6",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 250,
"cds_start": 289,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367380.9"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Asp88His",
"transcript": "ENST00000863141.1",
"protein_id": "ENSP00000533200.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 262,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863141.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Asp88His",
"transcript": "ENST00000863142.1",
"protein_id": "ENSP00000533201.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 262,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863142.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000917507.1",
"protein_id": "ENSP00000587566.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 232,
"cds_start": 220,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917507.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "NM_001360456.1",
"protein_id": "NP_001347385.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 228,
"cds_start": 220,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360456.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000863138.1",
"protein_id": "ENSP00000533197.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 227,
"cds_start": 220,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863138.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000941103.1",
"protein_id": "ENSP00000611162.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 227,
"cds_start": 220,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941103.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Asp74His",
"transcript": "ENST00000917503.1",
"protein_id": "ENSP00000587562.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 226,
"cds_start": 220,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917503.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.127G>C",
"hgvs_p": "p.Asp43His",
"transcript": "ENST00000495487.1",
"protein_id": "ENSP00000418881.1",
"transcript_support_level": 3,
"aa_start": 43,
"aa_end": null,
"aa_length": 95,
"cds_start": 127,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495487.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "XM_011535868.3",
"protein_id": "XP_011534170.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 223,
"cds_start": 205,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535868.3"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.367-3568G>C",
"hgvs_p": null,
"transcript": "NM_001252052.1",
"protein_id": "NP_001238981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001252049.1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}