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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: 1-62475761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62475761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62475761,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000635253.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5907G>A",
"hgvs_p": "p.Thr1969Thr",
"transcript": "NM_001367561.1",
"protein_id": "NP_001354490.1",
"transcript_support_level": null,
"aa_start": 1969,
"aa_end": null,
"aa_length": 2140,
"cds_start": 5907,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "ENST00000635253.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5907G>A",
"hgvs_p": "p.Thr1969Thr",
"transcript": "ENST00000635253.2",
"protein_id": "ENSP00000489124.1",
"transcript_support_level": 5,
"aa_start": 1969,
"aa_end": null,
"aa_length": 2140,
"cds_start": 5907,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 7233,
"mane_select": "NM_001367561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5874G>A",
"hgvs_p": "p.Thr1958Thr",
"transcript": "ENST00000454575.6",
"protein_id": "ENSP00000413583.2",
"transcript_support_level": 1,
"aa_start": 1958,
"aa_end": null,
"aa_length": 2129,
"cds_start": 5874,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5880G>A",
"hgvs_p": "p.Thr1960Thr",
"transcript": "NM_001330614.2",
"protein_id": "NP_001317543.1",
"transcript_support_level": null,
"aa_start": 1960,
"aa_end": null,
"aa_length": 2131,
"cds_start": 5880,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 6002,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5880G>A",
"hgvs_p": "p.Thr1960Thr",
"transcript": "ENST00000251157.10",
"protein_id": "ENSP00000251157.6",
"transcript_support_level": 5,
"aa_start": 1960,
"aa_end": null,
"aa_length": 2131,
"cds_start": 5880,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5874G>A",
"hgvs_p": "p.Thr1958Thr",
"transcript": "NM_001271999.2",
"protein_id": "NP_001258928.1",
"transcript_support_level": null,
"aa_start": 1958,
"aa_end": null,
"aa_length": 2129,
"cds_start": 5874,
"cds_end": null,
"cds_length": 6390,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 7200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5814G>A",
"hgvs_p": "p.Thr1938Thr",
"transcript": "NM_033407.4",
"protein_id": "NP_212132.2",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5814,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5814G>A",
"hgvs_p": "p.Thr1938Thr",
"transcript": "ENST00000340370.10",
"protein_id": "ENSP00000340742.5",
"transcript_support_level": 2,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5814,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 5814,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5787G>A",
"hgvs_p": "p.Thr1929Thr",
"transcript": "NM_001272000.2",
"protein_id": "NP_001258929.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2100,
"cds_start": 5787,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 5909,
"cdna_end": null,
"cdna_length": 7113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5787G>A",
"hgvs_p": "p.Thr1929Thr",
"transcript": "ENST00000634264.1",
"protein_id": "ENSP00000489284.1",
"transcript_support_level": 5,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2100,
"cds_start": 5787,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 5787,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5781G>A",
"hgvs_p": "p.Thr1927Thr",
"transcript": "NM_001272001.2",
"protein_id": "NP_001258930.1",
"transcript_support_level": null,
"aa_start": 1927,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5781,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 7107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5781G>A",
"hgvs_p": "p.Thr1927Thr",
"transcript": "ENST00000635123.1",
"protein_id": "ENSP00000489499.1",
"transcript_support_level": 5,
"aa_start": 1927,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5781,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 5781,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Thr1058Thr",
"transcript": "ENST00000637255.1",
"protein_id": "ENSP00000490888.1",
"transcript_support_level": 5,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5901G>A",
"hgvs_p": "p.Thr1967Thr",
"transcript": "XM_011542327.3",
"protein_id": "XP_011540629.1",
"transcript_support_level": null,
"aa_start": 1967,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5901,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6023,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5892G>A",
"hgvs_p": "p.Thr1964Thr",
"transcript": "XM_011542328.3",
"protein_id": "XP_011540630.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5892,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 6014,
"cdna_end": null,
"cdna_length": 7218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5865G>A",
"hgvs_p": "p.Thr1955Thr",
"transcript": "XM_047432964.1",
"protein_id": "XP_047288920.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2126,
"cds_start": 5865,
"cds_end": null,
"cds_length": 6381,
"cdna_start": 5987,
"cdna_end": null,
"cdna_length": 7191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5808G>A",
"hgvs_p": "p.Thr1936Thr",
"transcript": "XM_017002639.2",
"protein_id": "XP_016858128.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2107,
"cds_start": 5808,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 5930,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5799G>A",
"hgvs_p": "p.Thr1933Thr",
"transcript": "XM_047432966.1",
"protein_id": "XP_047288922.1",
"transcript_support_level": null,
"aa_start": 1933,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5799,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 5921,
"cdna_end": null,
"cdna_length": 7125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.5772G>A",
"hgvs_p": "p.Thr1924Thr",
"transcript": "XM_047432967.1",
"protein_id": "XP_047288923.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2095,
"cds_start": 5772,
"cds_end": null,
"cds_length": 6288,
"cdna_start": 5894,
"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.306G>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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.1578G>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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.2048G>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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "n.5586G>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": "rs765400205",
"frequency_reference_population": 0.000014870865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000150505,
"gnomad_genomes_af": 0.0000131451,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006000000052154064,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.279,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000635253.2",
"gene_symbol": "DOCK7",
"hgnc_id": 19190,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5907G>A",
"hgvs_p": "p.Thr1969Thr"
}
],
"clinvar_disease": " 23,Developmental and epileptic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 23",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}