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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: 1-53781598-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53781598&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53781598,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_018087.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1800+5560G>C",
"hgvs_p": null,
"transcript": "NM_018087.5",
"protein_id": "NP_060557.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371429.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1800+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000371429.4",
"protein_id": "ENSP00000360483.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018087.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371429.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1821+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000923529.1",
"protein_id": "ENSP00000593588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1797+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874541.1",
"protein_id": "ENSP00000544600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1785+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874543.1",
"protein_id": "ENSP00000544602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1776+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874547.1",
"protein_id": "ENSP00000544606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1749+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874542.1",
"protein_id": "ENSP00000544601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1707+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874548.1",
"protein_id": "ENSP00000544607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1698+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874546.1",
"protein_id": "ENSP00000544605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1689+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000923528.1",
"protein_id": "ENSP00000593587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1680+5560G>C",
"hgvs_p": null,
"transcript": "NM_001168551.2",
"protein_id": "NP_001162023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168551.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1680+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000923530.1",
"protein_id": "ENSP00000593589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1644+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000874545.1",
"protein_id": "ENSP00000544604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
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"cds_length": 1869,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874545.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1636-9109G>C",
"hgvs_p": null,
"transcript": "ENST00000874544.1",
"protein_id": "ENSP00000544603.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 619,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1554+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000923531.1",
"protein_id": "ENSP00000593590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923531.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1323+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000923526.1",
"protein_id": "ENSP00000593585.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923526.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1281+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000923527.1",
"protein_id": "ENSP00000593586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
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"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923527.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1200+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000945040.1",
"protein_id": "ENSP00000615099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945040.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1107+5560G>C",
"hgvs_p": null,
"transcript": "ENST00000945039.1",
"protein_id": "ENSP00000615098.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000945039.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "c.1797+5560G>C",
"hgvs_p": null,
"transcript": "XM_011541766.3",
"protein_id": "XP_011540068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011541766.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"hgvs_c": "n.1714+5560G>C",
"hgvs_p": null,
"transcript": "NR_033142.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033142.2"
}
],
"gene_symbol": "NDC1",
"gene_hgnc_id": 25525,
"dbsnp": "rs1569783",
"frequency_reference_population": 0.8437348,
"hom_count_reference_population": 54684,
"allele_count_reference_population": 128408,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.843735,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 128408,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 54684,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.681,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018087.5",
"gene_symbol": "NDC1",
"hgnc_id": 25525,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1800+5560G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}