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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: 7-158914307-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158914307&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 158914307,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407559.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"transcript": "NM_018051.5",
"protein_id": "NP_060521.4",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": "ENST00000407559.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"transcript": "ENST00000407559.8",
"protein_id": "ENSP00000384290.3",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": "NM_018051.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.1108C>T",
"hgvs_p": null,
"transcript": "ENST00000444851.5",
"protein_id": "ENSP00000392608.1",
"transcript_support_level": 1,
"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": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Arg547Trp",
"transcript": "NM_001350914.2",
"protein_id": "NP_001337843.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1639,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.Arg402Trp",
"transcript": "NM_001350915.2",
"protein_id": "NP_001337844.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 875,
"cds_start": 1204,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"transcript": "NM_001350917.2",
"protein_id": "NP_001337846.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 650,
"cds_start": 529,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"transcript": "NM_001350918.2",
"protein_id": "NP_001337847.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 650,
"cds_start": 529,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "NM_001350916.2",
"protein_id": "NP_001337845.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 579,
"cds_start": 316,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Arg596Trp",
"transcript": "XM_006716041.3",
"protein_id": "XP_006716104.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1786,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Arg596Trp",
"transcript": "XM_011516367.3",
"protein_id": "XP_011514669.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1786,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"transcript": "XM_047420557.1",
"protein_id": "XP_047276513.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "XM_011516369.3",
"protein_id": "XP_011514671.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1648,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "XM_017012381.3",
"protein_id": "XP_016867870.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1648,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "XM_047420555.1",
"protein_id": "XP_047276511.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1648,
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"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "XM_047420560.1",
"protein_id": "XP_047276516.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1648,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"transcript": "XM_017012382.2",
"protein_id": "XP_016867871.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1777,
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"cdna_start": 1955,
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"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Arg547Trp",
"transcript": "XM_047420556.1",
"protein_id": "XP_047276512.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1639,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "XM_047420558.1",
"protein_id": "XP_047276514.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 979,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1865,
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"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Arg547Trp",
"transcript": "XM_047420559.1",
"protein_id": "XP_047276515.1",
"transcript_support_level": null,
"aa_start": 547,
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"cdna_start": 1856,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Trp",
"transcript": "XM_047420561.1",
"protein_id": "XP_047276517.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 878,
"cds_start": 1213,
"cds_end": null,
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"cdna_start": 1240,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"transcript": "XM_047420562.1",
"protein_id": "XP_047276518.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 650,
"cds_start": 529,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "XM_017012388.2",
"protein_id": "XP_016867877.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 579,
"cds_start": 316,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.932,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "Jeune thoracic dystrophy,Short-rib thoracic dysplasia 8 with or without polydactyly,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|Jeune thoracic dystrophy|Short-rib thoracic dysplasia 8 with or without polydactyly",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}