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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: 7-111728329-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=111728329&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 111728329,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363540.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"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.5873G>C",
"hgvs_p": "p.Arg1958Thr",
"transcript": "NM_001363540.2",
"protein_id": "NP_001350469.1",
"transcript_support_level": null,
"aa_start": 1958,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5873,
"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": "R",
"aa_alt": "T",
"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.5873G>C",
"hgvs_p": "p.Arg1958Thr",
"transcript": "ENST00000428084.6",
"protein_id": "ENSP00000410746.1",
"transcript_support_level": 5,
"aa_start": 1958,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5873,
"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": "R",
"aa_alt": "T",
"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.5846G>C",
"hgvs_p": "p.Arg1949Thr",
"transcript": "ENST00000437633.6",
"protein_id": "ENSP00000404179.1",
"transcript_support_level": 1,
"aa_start": 1949,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5846,
"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": "R",
"aa_alt": "T",
"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.4112G>C",
"hgvs_p": "p.Arg1371Thr",
"transcript": "ENST00000423057.6",
"protein_id": "ENSP00000412834.1",
"transcript_support_level": 1,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4112,
"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": "R",
"aa_alt": "T",
"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.5942G>C",
"hgvs_p": "p.Arg1981Thr",
"transcript": "ENST00000445943.5",
"protein_id": "ENSP00000397412.1",
"transcript_support_level": 5,
"aa_start": 1981,
"aa_end": null,
"aa_length": 1998,
"cds_start": 5942,
"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": "R",
"aa_alt": "T",
"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.5846G>C",
"hgvs_p": "p.Arg1949Thr",
"transcript": "NM_014705.4",
"protein_id": "NP_055520.3",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5846,
"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": "R",
"aa_alt": "T",
"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.2639G>C",
"hgvs_p": "p.Arg880Thr",
"transcript": "ENST00000658652.1",
"protein_id": "ENSP00000499282.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 897,
"cds_start": 2639,
"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": "R",
"aa_alt": "T",
"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.2495G>C",
"hgvs_p": "p.Arg832Thr",
"transcript": "ENST00000450156.6",
"protein_id": "ENSP00000406468.2",
"transcript_support_level": 4,
"aa_start": 832,
"aa_end": null,
"aa_length": 849,
"cds_start": 2495,
"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": "R",
"aa_alt": "T",
"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.5966G>C",
"hgvs_p": "p.Arg1989Thr",
"transcript": "XM_017012819.2",
"protein_id": "XP_016868308.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5966,
"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": "R",
"aa_alt": "T",
"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.5939G>C",
"hgvs_p": "p.Arg1980Thr",
"transcript": "XM_017012820.2",
"protein_id": "XP_016868309.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5939,
"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": "R",
"aa_alt": "T",
"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.5912G>C",
"hgvs_p": "p.Arg1971Thr",
"transcript": "XM_017012821.2",
"protein_id": "XP_016868310.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5912,
"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": "R",
"aa_alt": "T",
"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.5906G>C",
"hgvs_p": "p.Arg1969Thr",
"transcript": "XM_017012822.2",
"protein_id": "XP_016868311.1",
"transcript_support_level": null,
"aa_start": 1969,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5906,
"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": "R",
"aa_alt": "T",
"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.5885G>C",
"hgvs_p": "p.Arg1962Thr",
"transcript": "XM_047421078.1",
"protein_id": "XP_047277034.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5885,
"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": "R",
"aa_alt": "T",
"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.5879G>C",
"hgvs_p": "p.Arg1960Thr",
"transcript": "XM_047421079.1",
"protein_id": "XP_047277035.1",
"transcript_support_level": null,
"aa_start": 1960,
"aa_end": null,
"aa_length": 1977,
"cds_start": 5879,
"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": "R",
"aa_alt": "T",
"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.5852G>C",
"hgvs_p": "p.Arg1951Thr",
"transcript": "XM_017012823.2",
"protein_id": "XP_016868312.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1968,
"cds_start": 5852,
"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": "R",
"aa_alt": "T",
"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.5825G>C",
"hgvs_p": "p.Arg1942Thr",
"transcript": "XM_017012824.2",
"protein_id": "XP_016868313.1",
"transcript_support_level": null,
"aa_start": 1942,
"aa_end": null,
"aa_length": 1959,
"cds_start": 5825,
"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": "R",
"aa_alt": "T",
"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.5798G>C",
"hgvs_p": "p.Arg1933Thr",
"transcript": "XM_017012825.2",
"protein_id": "XP_016868314.1",
"transcript_support_level": null,
"aa_start": 1933,
"aa_end": null,
"aa_length": 1950,
"cds_start": 5798,
"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": "R",
"aa_alt": "T",
"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.5792G>C",
"hgvs_p": "p.Arg1931Thr",
"transcript": "XM_047421081.1",
"protein_id": "XP_047277037.1",
"transcript_support_level": null,
"aa_start": 1931,
"aa_end": null,
"aa_length": 1948,
"cds_start": 5792,
"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": "R",
"aa_alt": "T",
"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.5759G>C",
"hgvs_p": "p.Arg1920Thr",
"transcript": "XM_006716189.3",
"protein_id": "XP_006716252.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5759,
"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": "R",
"aa_alt": "T",
"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.5645G>C",
"hgvs_p": "p.Arg1882Thr",
"transcript": "XM_024447006.2",
"protein_id": "XP_024302774.1",
"transcript_support_level": null,
"aa_start": 1882,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5645,
"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.*249G>C",
"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.1722G>C",
"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,
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"biotype": "retained_intron",
"feature": "ENST00000486186.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "DOCK4",
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"hgvs_c": "n.*92G>C",
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"transcript": "ENST00000494769.1",
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"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494769.1"
}
],
"gene_symbol": "DOCK4",
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"dbsnp": "rs774043230",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27079302072525024,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.1613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.528,
"phylop100way_prediction": "Uncertain_significance",
"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_001363540.2",
"gene_symbol": "DOCK4",
"hgnc_id": 19192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5873G>C",
"hgvs_p": "p.Arg1958Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}