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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: 7-111728525-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=111728525&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 111728525,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363540.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5677G>A",
"hgvs_p": "p.Val1893Met",
"transcript": "NM_001363540.2",
"protein_id": "NP_001350469.1",
"transcript_support_level": null,
"aa_start": 1893,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5677,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428084.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363540.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5677G>A",
"hgvs_p": "p.Val1893Met",
"transcript": "ENST00000428084.6",
"protein_id": "ENSP00000410746.1",
"transcript_support_level": 5,
"aa_start": 1893,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5677,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363540.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428084.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5650G>A",
"hgvs_p": "p.Val1884Met",
"transcript": "ENST00000437633.6",
"protein_id": "ENSP00000404179.1",
"transcript_support_level": 1,
"aa_start": 1884,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5650,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437633.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.3916G>A",
"hgvs_p": "p.Val1306Met",
"transcript": "ENST00000423057.6",
"protein_id": "ENSP00000412834.1",
"transcript_support_level": 1,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3916,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423057.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5746G>A",
"hgvs_p": "p.Val1916Met",
"transcript": "ENST00000445943.5",
"protein_id": "ENSP00000397412.1",
"transcript_support_level": 5,
"aa_start": 1916,
"aa_end": null,
"aa_length": 1998,
"cds_start": 5746,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445943.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5650G>A",
"hgvs_p": "p.Val1884Met",
"transcript": "NM_014705.4",
"protein_id": "NP_055520.3",
"transcript_support_level": null,
"aa_start": 1884,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5650,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014705.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2443G>A",
"hgvs_p": "p.Val815Met",
"transcript": "ENST00000658652.1",
"protein_id": "ENSP00000499282.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 897,
"cds_start": 2443,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000658652.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Val767Met",
"transcript": "ENST00000450156.6",
"protein_id": "ENSP00000406468.2",
"transcript_support_level": 4,
"aa_start": 767,
"aa_end": null,
"aa_length": 849,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450156.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5770G>A",
"hgvs_p": "p.Val1924Met",
"transcript": "XM_017012819.2",
"protein_id": "XP_016868308.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5770,
"cds_end": null,
"cds_length": 6021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012819.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5743G>A",
"hgvs_p": "p.Val1915Met",
"transcript": "XM_017012820.2",
"protein_id": "XP_016868309.1",
"transcript_support_level": null,
"aa_start": 1915,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5743,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012820.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5716G>A",
"hgvs_p": "p.Val1906Met",
"transcript": "XM_017012821.2",
"protein_id": "XP_016868310.1",
"transcript_support_level": null,
"aa_start": 1906,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5716,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012821.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5710G>A",
"hgvs_p": "p.Val1904Met",
"transcript": "XM_017012822.2",
"protein_id": "XP_016868311.1",
"transcript_support_level": null,
"aa_start": 1904,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5710,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012822.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5689G>A",
"hgvs_p": "p.Val1897Met",
"transcript": "XM_047421078.1",
"protein_id": "XP_047277034.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5689,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421078.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5683G>A",
"hgvs_p": "p.Val1895Met",
"transcript": "XM_047421079.1",
"protein_id": "XP_047277035.1",
"transcript_support_level": null,
"aa_start": 1895,
"aa_end": null,
"aa_length": 1977,
"cds_start": 5683,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421079.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5656G>A",
"hgvs_p": "p.Val1886Met",
"transcript": "XM_017012823.2",
"protein_id": "XP_016868312.1",
"transcript_support_level": null,
"aa_start": 1886,
"aa_end": null,
"aa_length": 1968,
"cds_start": 5656,
"cds_end": null,
"cds_length": 5907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012823.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5629G>A",
"hgvs_p": "p.Val1877Met",
"transcript": "XM_017012824.2",
"protein_id": "XP_016868313.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 1959,
"cds_start": 5629,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012824.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5602G>A",
"hgvs_p": "p.Val1868Met",
"transcript": "XM_017012825.2",
"protein_id": "XP_016868314.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5602,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012825.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5596G>A",
"hgvs_p": "p.Val1866Met",
"transcript": "XM_047421081.1",
"protein_id": "XP_047277037.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1948,
"cds_start": 5596,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421081.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5563G>A",
"hgvs_p": "p.Val1855Met",
"transcript": "XM_006716189.3",
"protein_id": "XP_006716252.1",
"transcript_support_level": null,
"aa_start": 1855,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5563,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716189.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.5449G>A",
"hgvs_p": "p.Val1817Met",
"transcript": "XM_024447006.2",
"protein_id": "XP_024302774.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5449,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "ENST00000664131.1",
"protein_id": "ENSP00000499490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.1526G>A",
"hgvs_p": null,
"transcript": "ENST00000486186.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000486186.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"hgvs_c": "n.485G>A",
"hgvs_p": null,
"transcript": "ENST00000494769.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000494769.1"
}
],
"gene_symbol": "DOCK4",
"gene_hgnc_id": 19192,
"dbsnp": "rs369715294",
"frequency_reference_population": 0.00004400552,
"hom_count_reference_population": 1,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000451698,
"gnomad_genomes_af": 0.0000328338,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0437052845954895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.191,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001363540.2",
"gene_symbol": "DOCK4",
"hgnc_id": 19192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5677G>A",
"hgvs_p": "p.Val1893Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}