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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: 1-62455456-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62455456&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62455456,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001367561.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6381A>G",
"hgvs_p": "p.Arg2127Arg",
"transcript": "NM_001367561.1",
"protein_id": "NP_001354490.1",
"transcript_support_level": null,
"aa_start": 2127,
"aa_end": null,
"aa_length": 2140,
"cds_start": 6381,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6503,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "ENST00000635253.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6381A>G",
"hgvs_p": "p.Arg2127Arg",
"transcript": "ENST00000635253.2",
"protein_id": "ENSP00000489124.1",
"transcript_support_level": 5,
"aa_start": 2127,
"aa_end": null,
"aa_length": 2140,
"cds_start": 6381,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6503,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "NM_001367561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6348A>G",
"hgvs_p": "p.Arg2116Arg",
"transcript": "ENST00000454575.6",
"protein_id": "ENSP00000413583.2",
"transcript_support_level": 1,
"aa_start": 2116,
"aa_end": null,
"aa_length": 2129,
"cds_start": 6348,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 6359,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6354A>G",
"hgvs_p": "p.Arg2118Arg",
"transcript": "NM_001330614.2",
"protein_id": "NP_001317543.1",
"transcript_support_level": null,
"aa_start": 2118,
"aa_end": null,
"aa_length": 2131,
"cds_start": 6354,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 6476,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6354A>G",
"hgvs_p": "p.Arg2118Arg",
"transcript": "ENST00000251157.10",
"protein_id": "ENSP00000251157.6",
"transcript_support_level": 5,
"aa_start": 2118,
"aa_end": null,
"aa_length": 2131,
"cds_start": 6354,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 6354,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6348A>G",
"hgvs_p": "p.Arg2116Arg",
"transcript": "NM_001271999.2",
"protein_id": "NP_001258928.1",
"transcript_support_level": null,
"aa_start": 2116,
"aa_end": null,
"aa_length": 2129,
"cds_start": 6348,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 6470,
"cdna_end": null,
"cdna_length": 7200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6288A>G",
"hgvs_p": "p.Arg2096Arg",
"transcript": "NM_033407.4",
"protein_id": "NP_212132.2",
"transcript_support_level": null,
"aa_start": 2096,
"aa_end": null,
"aa_length": 2109,
"cds_start": 6288,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 6410,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6288A>G",
"hgvs_p": "p.Arg2096Arg",
"transcript": "ENST00000340370.10",
"protein_id": "ENSP00000340742.5",
"transcript_support_level": 2,
"aa_start": 2096,
"aa_end": null,
"aa_length": 2109,
"cds_start": 6288,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 6288,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6261A>G",
"hgvs_p": "p.Arg2087Arg",
"transcript": "NM_001272000.2",
"protein_id": "NP_001258929.1",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2100,
"cds_start": 6261,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 6383,
"cdna_end": null,
"cdna_length": 7113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6261A>G",
"hgvs_p": "p.Arg2087Arg",
"transcript": "ENST00000634264.1",
"protein_id": "ENSP00000489284.1",
"transcript_support_level": 5,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2100,
"cds_start": 6261,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 6261,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6255A>G",
"hgvs_p": "p.Arg2085Arg",
"transcript": "NM_001272001.2",
"protein_id": "NP_001258930.1",
"transcript_support_level": null,
"aa_start": 2085,
"aa_end": null,
"aa_length": 2098,
"cds_start": 6255,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 6377,
"cdna_end": null,
"cdna_length": 7107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6255A>G",
"hgvs_p": "p.Arg2085Arg",
"transcript": "ENST00000635123.1",
"protein_id": "ENSP00000489499.1",
"transcript_support_level": 5,
"aa_start": 2085,
"aa_end": null,
"aa_length": 2098,
"cds_start": 6255,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.3648A>G",
"hgvs_p": "p.Arg1216Arg",
"transcript": "ENST00000637255.1",
"protein_id": "ENSP00000490888.1",
"transcript_support_level": 5,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6375A>G",
"hgvs_p": "p.Arg2125Arg",
"transcript": "XM_011542327.3",
"protein_id": "XP_011540629.1",
"transcript_support_level": null,
"aa_start": 2125,
"aa_end": null,
"aa_length": 2138,
"cds_start": 6375,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6497,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6366A>G",
"hgvs_p": "p.Arg2122Arg",
"transcript": "XM_011542328.3",
"protein_id": "XP_011540630.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6366,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 6488,
"cdna_end": null,
"cdna_length": 7218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6339A>G",
"hgvs_p": "p.Arg2113Arg",
"transcript": "XM_047432964.1",
"protein_id": "XP_047288920.1",
"transcript_support_level": null,
"aa_start": 2113,
"aa_end": null,
"aa_length": 2126,
"cds_start": 6339,
"cds_end": null,
"cds_length": 6381,
"cdna_start": 6461,
"cdna_end": null,
"cdna_length": 7191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6282A>G",
"hgvs_p": "p.Arg2094Arg",
"transcript": "XM_017002639.2",
"protein_id": "XP_016858128.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2107,
"cds_start": 6282,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 6404,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6273A>G",
"hgvs_p": "p.Arg2091Arg",
"transcript": "XM_047432966.1",
"protein_id": "XP_047288922.1",
"transcript_support_level": null,
"aa_start": 2091,
"aa_end": null,
"aa_length": 2104,
"cds_start": 6273,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 6395,
"cdna_end": null,
"cdna_length": 7125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.6246A>G",
"hgvs_p": "p.Arg2082Arg",
"transcript": "XM_047432967.1",
"protein_id": "XP_047288923.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2095,
"cds_start": 6246,
"cds_end": null,
"cds_length": 6288,
"cdna_start": 6368,
"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": [
"splice_region_variant",
"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.1663A>G",
"hgvs_p": null,
"transcript": "ENST00000635348.1",
"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": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.6060A>G",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.2522-2A>G",
"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
}
],
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"dbsnp": "rs1166858046",
"frequency_reference_population": 0.000010537434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000095818,
"gnomad_genomes_af": 0.0000197119,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08699999749660492,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.183,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000748597638551805,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001367561.1",
"gene_symbol": "DOCK7",
"hgnc_id": 19190,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6381A>G",
"hgvs_p": "p.Arg2127Arg"
}
],
"clinvar_disease": " 23,Developmental and epileptic encephalopathy,Inborn genetic diseases",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 23|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}