← Back to variant description
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: 6-30703749-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30703749&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30703749,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014641.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "NM_014641.3",
"protein_id": "NP_055456.2",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "ENST00000376406.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "ENST00000376406.8",
"protein_id": "ENSP00000365588.3",
"transcript_support_level": 5,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "NM_014641.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5497A>G",
"hgvs_p": "p.Lys1833Glu",
"transcript": "XM_005249492.3",
"protein_id": "XP_005249549.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5497,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 5837,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5497A>G",
"hgvs_p": "p.Lys1833Glu",
"transcript": "XM_047419580.1",
"protein_id": "XP_047275536.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5497,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 5676,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5494A>G",
"hgvs_p": "p.Lys1832Glu",
"transcript": "XM_047419581.1",
"protein_id": "XP_047275537.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5494,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5673,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "XM_005249494.6",
"protein_id": "XP_005249551.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5470,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "XM_011515003.4",
"protein_id": "XP_011513305.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5681,
"cdna_end": null,
"cdna_length": 7175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "XM_047419582.1",
"protein_id": "XP_047275538.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5594,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "XM_047419583.1",
"protein_id": "XP_047275539.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5755,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu",
"transcript": "XM_047419584.1",
"protein_id": "XP_047275540.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5434,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5520,
"cdna_end": null,
"cdna_length": 7014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5050A>G",
"hgvs_p": "p.Lys1684Glu",
"transcript": "XM_011515004.4",
"protein_id": "XP_011513306.1",
"transcript_support_level": null,
"aa_start": 1684,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5050,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 5139,
"cdna_end": null,
"cdna_length": 6633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4927A>G",
"hgvs_p": "p.Lys1643Glu",
"transcript": "XM_005249497.5",
"protein_id": "XP_005249554.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1920,
"cds_start": 4927,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5267,
"cdna_end": null,
"cdna_length": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4924A>G",
"hgvs_p": "p.Lys1642Glu",
"transcript": "XM_047419585.1",
"protein_id": "XP_047275541.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1919,
"cds_start": 4924,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 5103,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4864A>G",
"hgvs_p": "p.Lys1622Glu",
"transcript": "XM_047419586.1",
"protein_id": "XP_047275542.1",
"transcript_support_level": null,
"aa_start": 1622,
"aa_end": null,
"aa_length": 1899,
"cds_start": 4864,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 4900,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4705A>G",
"hgvs_p": "p.Lys1569Glu",
"transcript": "XM_005249498.5",
"protein_id": "XP_005249555.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4705,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5045,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4705A>G",
"hgvs_p": "p.Lys1569Glu",
"transcript": "XM_047419587.1",
"protein_id": "XP_047275543.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4705,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 4884,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4702A>G",
"hgvs_p": "p.Lys1568Glu",
"transcript": "XM_017011522.3",
"protein_id": "XP_016867011.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 4881,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4642A>G",
"hgvs_p": "p.Lys1548Glu",
"transcript": "XM_047419588.1",
"protein_id": "XP_047275544.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4642,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4678,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4639A>G",
"hgvs_p": "p.Lys1547Glu",
"transcript": "XM_047419589.1",
"protein_id": "XP_047275545.1",
"transcript_support_level": null,
"aa_start": 1547,
"aa_end": null,
"aa_length": 1824,
"cds_start": 4639,
"cds_end": null,
"cds_length": 5475,
"cdna_start": 4675,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "n.333A>G",
"hgvs_p": null,
"transcript": "ENST00000489540.1",
"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": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDC1-AS1",
"gene_hgnc_id": 39764,
"hgvs_c": "n.127+556T>C",
"hgvs_p": null,
"transcript": "ENST00000442150.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDC1-AS1",
"gene_hgnc_id": 39764,
"hgvs_c": "n.127+556T>C",
"hgvs_p": null,
"transcript": "NR_133647.1",
"protein_id": null,
"transcript_support_level": null,
"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": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"dbsnp": "rs192518449",
"frequency_reference_population": 0.000009046511,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000860051,
"gnomad_genomes_af": 0.0000131327,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14805221557617188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1788,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.329,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014641.3",
"gene_symbol": "MDC1",
"hgnc_id": 21163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5434A>G",
"hgvs_p": "p.Lys1812Glu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000442150.1",
"gene_symbol": "MDC1-AS1",
"hgnc_id": 39764,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127+556T>C",
"hgvs_p": null
}
],
"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
}