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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: 2-171744178-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171744178&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171744178,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1666A>C",
"hgvs_p": "p.Asn556His",
"transcript": "NM_001378.3",
"protein_id": "NP_001369.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 638,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": "ENST00000397119.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1666A>C",
"hgvs_p": "p.Asn556His",
"transcript": "ENST00000397119.8",
"protein_id": "ENSP00000380308.3",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 638,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": "NM_001378.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "ENST00000340296.8",
"protein_id": "ENSP00000339430.4",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 612,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "ENST00000409197.5",
"protein_id": "ENSP00000386397.1",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 612,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "ENST00000508530.5",
"protein_id": "ENSP00000423339.1",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 611,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "n.1819A>C",
"hgvs_p": null,
"transcript": "ENST00000482454.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1666A>C",
"hgvs_p": "p.Asn556His",
"transcript": "NM_001271785.2",
"protein_id": "NP_001258714.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 638,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1666A>C",
"hgvs_p": "p.Asn556His",
"transcript": "ENST00000409773.5",
"protein_id": "ENSP00000386415.1",
"transcript_support_level": 2,
"aa_start": 556,
"aa_end": null,
"aa_length": 638,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1666A>C",
"hgvs_p": "p.Asn556His",
"transcript": "ENST00000409453.5",
"protein_id": "ENSP00000386886.1",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 637,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Asn550His",
"transcript": "NM_001320882.2",
"protein_id": "NP_001307811.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 632,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Asn550His",
"transcript": "NM_001320883.2",
"protein_id": "NP_001307812.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 632,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Asn550His",
"transcript": "ENST00000409317.5",
"protein_id": "ENSP00000386591.1",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 632,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Asn550His",
"transcript": "NM_001378455.1",
"protein_id": "NP_001365384.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 631,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Asn550His",
"transcript": "NM_001378456.1",
"protein_id": "NP_001365385.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1642A>C",
"hgvs_p": "p.Asn548His",
"transcript": "NM_001271786.2",
"protein_id": "NP_001258715.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 630,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1642A>C",
"hgvs_p": "p.Asn548His",
"transcript": "NM_001271787.2",
"protein_id": "NP_001258716.1",
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"aa_start": 548,
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"cdna_start": 1770,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1642A>C",
"hgvs_p": "p.Asn548His",
"transcript": "ENST00000410079.7",
"protein_id": "ENSP00000386522.3",
"transcript_support_level": 2,
"aa_start": 548,
"aa_end": null,
"aa_length": 630,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "NM_001271788.2",
"protein_id": "NP_001258717.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 612,
"cds_start": 1588,
"cds_end": null,
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"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "NM_001271789.2",
"protein_id": "NP_001258718.1",
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "NM_001271790.2",
"protein_id": "NP_001258719.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 611,
"cds_start": 1588,
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"cdna_start": 1756,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Asn530His",
"transcript": "NM_001320884.2",
"protein_id": "NP_001307813.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 611,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "n.1029A>C",
"hgvs_p": null,
"transcript": "ENST00000479806.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"dbsnp": "rs1395835043",
"frequency_reference_population": 6.869321e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86932e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36159682273864746,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1467,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.321,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378.3",
"gene_symbol": "DYNC1I2",
"hgnc_id": 2964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1666A>C",
"hgvs_p": "p.Asn556His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}