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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: 1-226064451-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226064451&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226064451,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002107.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "NM_002107.7",
"protein_id": "NP_002098.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366815.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002107.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000366815.10",
"protein_id": "ENSP00000355780.3",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002107.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366815.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000366813.1",
"protein_id": "ENSP00000355778.1",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366813.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000921925.1",
"protein_id": "ENSP00000591984.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 140,
"cds_start": 100,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921925.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "NM_001379043.1",
"protein_id": "NP_001365972.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379043.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "NM_001379045.1",
"protein_id": "NP_001365974.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379045.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "NM_001379046.1",
"protein_id": "NP_001365975.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379046.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "NM_001379047.1",
"protein_id": "NP_001365976.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379047.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000366816.5",
"protein_id": "ENSP00000355781.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366816.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000655399.1",
"protein_id": "ENSP00000499800.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655399.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000661429.1",
"protein_id": "ENSP00000499385.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661429.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000666609.1",
"protein_id": "ENSP00000499275.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666609.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904835.1",
"protein_id": "ENSP00000574894.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904835.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904836.1",
"protein_id": "ENSP00000574895.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904836.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904838.1",
"protein_id": "ENSP00000574897.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904838.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904839.1",
"protein_id": "ENSP00000574898.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904839.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904840.1",
"protein_id": "ENSP00000574899.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904840.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904841.1",
"protein_id": "ENSP00000574900.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904841.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000904842.1",
"protein_id": "ENSP00000574901.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904842.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000921919.1",
"protein_id": "ENSP00000591978.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921919.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000921920.1",
"protein_id": "ENSP00000591979.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921920.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000921921.1",
"protein_id": "ENSP00000591980.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 136,
"cds_start": 100,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921921.1"
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_score": 0.479,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.994,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 5,
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"pathogenic_score": 5,
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"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002107.7",
"gene_symbol": "H3-3A",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}