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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: 6-30703719-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30703719&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30703719,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014641.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "NM_014641.3",
"protein_id": "NP_055456.2",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5504,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "ENST00000376406.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "ENST00000376406.8",
"protein_id": "ENSP00000365588.3",
"transcript_support_level": 5,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5504,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": "NM_014641.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5527C>T",
"hgvs_p": "p.Pro1843Ser",
"transcript": "XM_005249492.3",
"protein_id": "XP_005249549.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5527,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 5867,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5527C>T",
"hgvs_p": "p.Pro1843Ser",
"transcript": "XM_047419580.1",
"protein_id": "XP_047275536.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5527,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 5706,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5524C>T",
"hgvs_p": "p.Pro1842Ser",
"transcript": "XM_047419581.1",
"protein_id": "XP_047275537.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5524,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5703,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "XM_005249494.6",
"protein_id": "XP_005249551.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5500,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "XM_011515003.4",
"protein_id": "XP_011513305.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5711,
"cdna_end": null,
"cdna_length": 7175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "XM_047419582.1",
"protein_id": "XP_047275538.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5624,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "XM_047419583.1",
"protein_id": "XP_047275539.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5785,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser",
"transcript": "XM_047419584.1",
"protein_id": "XP_047275540.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5464,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 5550,
"cdna_end": null,
"cdna_length": 7014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.5080C>T",
"hgvs_p": "p.Pro1694Ser",
"transcript": "XM_011515004.4",
"protein_id": "XP_011513306.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5080,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 5169,
"cdna_end": null,
"cdna_length": 6633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4957C>T",
"hgvs_p": "p.Pro1653Ser",
"transcript": "XM_005249497.5",
"protein_id": "XP_005249554.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1920,
"cds_start": 4957,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5297,
"cdna_end": null,
"cdna_length": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4954C>T",
"hgvs_p": "p.Pro1652Ser",
"transcript": "XM_047419585.1",
"protein_id": "XP_047275541.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1919,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 5133,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4894C>T",
"hgvs_p": "p.Pro1632Ser",
"transcript": "XM_047419586.1",
"protein_id": "XP_047275542.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 1899,
"cds_start": 4894,
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"cds_length": 5700,
"cdna_start": 4930,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4735C>T",
"hgvs_p": "p.Pro1579Ser",
"transcript": "XM_005249498.5",
"protein_id": "XP_005249555.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4735,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5075,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4735C>T",
"hgvs_p": "p.Pro1579Ser",
"transcript": "XM_047419587.1",
"protein_id": "XP_047275543.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
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"cds_start": 4735,
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"cdna_start": 4914,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4732C>T",
"hgvs_p": "p.Pro1578Ser",
"transcript": "XM_017011522.3",
"protein_id": "XP_016867011.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4732,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 4911,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4672C>T",
"hgvs_p": "p.Pro1558Ser",
"transcript": "XM_047419588.1",
"protein_id": "XP_047275544.1",
"transcript_support_level": null,
"aa_start": 1558,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4672,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4708,
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"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4669C>T",
"hgvs_p": "p.Pro1557Ser",
"transcript": "XM_047419589.1",
"protein_id": "XP_047275545.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
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"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.363C>T",
"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,
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"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+526G>A",
"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+526G>A",
"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": "rs972520492",
"frequency_reference_population": 0.0000110331575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000648117,
"gnomad_genomes_af": 0.0000525721,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23692306876182556,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0938,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.024,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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.5464C>T",
"hgvs_p": "p.Pro1822Ser"
},
{
"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+526G>A",
"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
}