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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: 1-62475295-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62475295&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62475295,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000635253.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6018G>A",
"hgvs_p": "p.Glu2006Glu",
"transcript": "NM_001367561.1",
"protein_id": "NP_001354490.1",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2140,
"cds_start": 6018,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6140,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "ENST00000635253.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6018G>A",
"hgvs_p": "p.Glu2006Glu",
"transcript": "ENST00000635253.2",
"protein_id": "ENSP00000489124.1",
"transcript_support_level": 5,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2140,
"cds_start": 6018,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6140,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "NM_001367561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5985G>A",
"hgvs_p": "p.Glu1995Glu",
"transcript": "ENST00000454575.6",
"protein_id": "ENSP00000413583.2",
"transcript_support_level": 1,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2129,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5991G>A",
"hgvs_p": "p.Glu1997Glu",
"transcript": "NM_001330614.2",
"protein_id": "NP_001317543.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2131,
"cds_start": 5991,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 6113,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5991G>A",
"hgvs_p": "p.Glu1997Glu",
"transcript": "ENST00000251157.10",
"protein_id": "ENSP00000251157.6",
"transcript_support_level": 5,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2131,
"cds_start": 5991,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 5991,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5985G>A",
"hgvs_p": "p.Glu1995Glu",
"transcript": "NM_001271999.2",
"protein_id": "NP_001258928.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2129,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 6107,
"cdna_end": null,
"cdna_length": 7200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5925G>A",
"hgvs_p": "p.Glu1975Glu",
"transcript": "NM_033407.4",
"protein_id": "NP_212132.2",
"transcript_support_level": null,
"aa_start": 1975,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5925,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 6047,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5925G>A",
"hgvs_p": "p.Glu1975Glu",
"transcript": "ENST00000340370.10",
"protein_id": "ENSP00000340742.5",
"transcript_support_level": 2,
"aa_start": 1975,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5925,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5925,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5898G>A",
"hgvs_p": "p.Glu1966Glu",
"transcript": "NM_001272000.2",
"protein_id": "NP_001258929.1",
"transcript_support_level": null,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2100,
"cds_start": 5898,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 6020,
"cdna_end": null,
"cdna_length": 7113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5898G>A",
"hgvs_p": "p.Glu1966Glu",
"transcript": "ENST00000634264.1",
"protein_id": "ENSP00000489284.1",
"transcript_support_level": 5,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2100,
"cds_start": 5898,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 5898,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5892G>A",
"hgvs_p": "p.Glu1964Glu",
"transcript": "NM_001272001.2",
"protein_id": "NP_001258930.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5892,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 6014,
"cdna_end": null,
"cdna_length": 7107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5892G>A",
"hgvs_p": "p.Glu1964Glu",
"transcript": "ENST00000635123.1",
"protein_id": "ENSP00000489499.1",
"transcript_support_level": 5,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5892,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 5892,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Glu1095Glu",
"transcript": "ENST00000637255.1",
"protein_id": "ENSP00000490888.1",
"transcript_support_level": 5,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3285,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6012G>A",
"hgvs_p": "p.Glu2004Glu",
"transcript": "XM_011542327.3",
"protein_id": "XP_011540629.1",
"transcript_support_level": null,
"aa_start": 2004,
"aa_end": null,
"aa_length": 2138,
"cds_start": 6012,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6134,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6003G>A",
"hgvs_p": "p.Glu2001Glu",
"transcript": "XM_011542328.3",
"protein_id": "XP_011540630.1",
"transcript_support_level": null,
"aa_start": 2001,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6003,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 6125,
"cdna_end": null,
"cdna_length": 7218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5976G>A",
"hgvs_p": "p.Glu1992Glu",
"transcript": "XM_047432964.1",
"protein_id": "XP_047288920.1",
"transcript_support_level": null,
"aa_start": 1992,
"aa_end": null,
"aa_length": 2126,
"cds_start": 5976,
"cds_end": null,
"cds_length": 6381,
"cdna_start": 6098,
"cdna_end": null,
"cdna_length": 7191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5919G>A",
"hgvs_p": "p.Glu1973Glu",
"transcript": "XM_017002639.2",
"protein_id": "XP_016858128.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 2107,
"cds_start": 5919,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 6041,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5910G>A",
"hgvs_p": "p.Glu1970Glu",
"transcript": "XM_047432966.1",
"protein_id": "XP_047288922.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5910,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 6032,
"cdna_end": null,
"cdna_length": 7125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5883G>A",
"hgvs_p": "p.Glu1961Glu",
"transcript": "XM_047432967.1",
"protein_id": "XP_047288923.1",
"transcript_support_level": null,
"aa_start": 1961,
"aa_end": null,
"aa_length": 2095,
"cds_start": 5883,
"cds_end": null,
"cds_length": 6288,
"cdna_start": 6005,
"cdna_end": null,
"cdna_length": 7098,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.772G>A",
"hgvs_p": null,
"transcript": "ENST00000467758.1",
"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": 855,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.1689G>A",
"hgvs_p": null,
"transcript": "ENST00000489185.1",
"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": 1855,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.2159G>A",
"hgvs_p": null,
"transcript": "ENST00000634495.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 3678,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.5697G>A",
"hgvs_p": null,
"transcript": "ENST00000635983.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 6506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"dbsnp": "rs143414077",
"frequency_reference_population": 0.000121438025,
"hom_count_reference_population": 0,
"allele_count_reference_population": 196,
"gnomad_exomes_af": 0.000103985,
"gnomad_genomes_af": 0.000289021,
"gnomad_exomes_ac": 152,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3190000057220459,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.601,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000635253.2",
"gene_symbol": "DOCK7",
"hgnc_id": 19190,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6018G>A",
"hgvs_p": "p.Glu2006Glu"
}
],
"clinvar_disease": " 23,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Developmental and epileptic encephalopathy, 23|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}