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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: 7-158879928-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158879928&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 158879928,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407559.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Gln273Leu",
"transcript": "NM_018051.5",
"protein_id": "NP_060521.4",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1066,
"cds_start": 818,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": "ENST00000407559.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Gln273Leu",
"transcript": "ENST00000407559.8",
"protein_id": "ENSP00000384290.3",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 1066,
"cds_start": 818,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 996,
"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": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.149A>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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.301A>T",
"hgvs_p": "p.Lys101*",
"transcript": "NM_001350915.2",
"protein_id": "NP_001337844.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 875,
"cds_start": 301,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.301A>T",
"hgvs_p": "p.Lys101*",
"transcript": "XM_047420561.1",
"protein_id": "XP_047276517.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 878,
"cds_start": 301,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "NM_001350914.2",
"protein_id": "NP_001337843.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1020,
"cds_start": 680,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Gln273Leu",
"transcript": "XM_006716041.3",
"protein_id": "XP_006716104.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1069,
"cds_start": 818,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Gln273Leu",
"transcript": "XM_011516367.3",
"protein_id": "XP_011514669.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1069,
"cds_start": 818,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Gln273Leu",
"transcript": "XM_047420557.1",
"protein_id": "XP_047276513.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1066,
"cds_start": 818,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_011516369.3",
"protein_id": "XP_011514671.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1023,
"cds_start": 680,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_017012381.3",
"protein_id": "XP_016867870.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1023,
"cds_start": 680,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_047420555.1",
"protein_id": "XP_047276511.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1023,
"cds_start": 680,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_047420560.1",
"protein_id": "XP_047276516.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1023,
"cds_start": 680,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Gln273Leu",
"transcript": "XM_017012382.2",
"protein_id": "XP_016867871.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
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"cds_start": 818,
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"cdna_start": 996,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_047420556.1",
"protein_id": "XP_047276512.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1020,
"cds_start": 680,
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"cds_length": 3063,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_047420558.1",
"protein_id": "XP_047276514.1",
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"cdna_start": 897,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.680A>T",
"hgvs_p": "p.Gln227Leu",
"transcript": "XM_047420559.1",
"protein_id": "XP_047276515.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 976,
"cds_start": 680,
"cds_end": null,
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"cdna_start": 897,
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"cdna_length": 3558,
"mane_select": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.897A>T",
"hgvs_p": null,
"transcript": "XR_007060057.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.897A>T",
"hgvs_p": null,
"transcript": "XR_007060058.1",
"protein_id": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.897A>T",
"hgvs_p": null,
"transcript": "XR_007060059.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.897A>T",
"hgvs_p": null,
"transcript": "XR_007060060.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.897A>T",
"hgvs_p": null,
"transcript": "XR_007060061.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 12713,
"mane_select": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.897A>T",
"hgvs_p": null,
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}
],
"message": null
}