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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: 7-158945747-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158945747&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 158945747,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000407559.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Ala1057Thr",
"transcript": "NM_018051.5",
"protein_id": "NP_060521.4",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": "ENST00000407559.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Ala1057Thr",
"transcript": "ENST00000407559.8",
"protein_id": "ENSP00000384290.3",
"transcript_support_level": 1,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3347,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.*758G>A",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.*758G>A",
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3031G>A",
"hgvs_p": "p.Ala1011Thr",
"transcript": "NM_001350914.2",
"protein_id": "NP_001337843.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1020,
"cds_start": 3031,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3408,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2596G>A",
"hgvs_p": "p.Ala866Thr",
"transcript": "NM_001350915.2",
"protein_id": "NP_001337844.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 875,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Ala641Thr",
"transcript": "NM_001350917.2",
"protein_id": "NP_001337846.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 650,
"cds_start": 1921,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3465,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Ala641Thr",
"transcript": "NM_001350918.2",
"protein_id": "NP_001337847.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 650,
"cds_start": 1921,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3584,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Ala570Thr",
"transcript": "NM_001350916.2",
"protein_id": "NP_001337845.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 579,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Ala1060Thr",
"transcript": "XM_006716041.3",
"protein_id": "XP_006716104.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Ala1060Thr",
"transcript": "XM_011516367.3",
"protein_id": "XP_011514669.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Ala1057Thr",
"transcript": "XM_047420557.1",
"protein_id": "XP_047276513.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Ala1014Thr",
"transcript": "XM_011516369.3",
"protein_id": "XP_011514671.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Ala1014Thr",
"transcript": "XM_017012381.3",
"protein_id": "XP_016867870.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Ala1014Thr",
"transcript": "XM_047420555.1",
"protein_id": "XP_047276511.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Ala1014Thr",
"transcript": "XM_047420560.1",
"protein_id": "XP_047276516.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3037G>A",
"hgvs_p": "p.Ala1013Thr",
"transcript": "XM_017012382.2",
"protein_id": "XP_016867871.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1022,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3031G>A",
"hgvs_p": "p.Ala1011Thr",
"transcript": "XM_047420556.1",
"protein_id": "XP_047276512.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1020,
"cds_start": 3031,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3254,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2908G>A",
"hgvs_p": "p.Ala970Thr",
"transcript": "XM_047420558.1",
"protein_id": "XP_047276514.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 979,
"cds_start": 2908,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Ala967Thr",
"transcript": "XM_047420559.1",
"protein_id": "XP_047276515.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 976,
"cds_start": 2899,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Ala869Thr",
"transcript": "XM_047420561.1",
"protein_id": "XP_047276517.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 878,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Ala641Thr",
"transcript": "XM_047420562.1",
"protein_id": "XP_047276518.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 650,
"cds_start": 1921,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
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],
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "Short-rib thoracic dysplasia 8 with or without polydactyly",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Short-rib thoracic dysplasia 8 with or without polydactyly",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}