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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: 8-93804851-A-AATGAAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93804851&ref=A&alt=AATGAAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93804851,
"ref": "A",
"alt": "AATGAAT",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000453321.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2418_2423dupTATGAA",
"hgvs_p": "p.Asn808_Leu809insMetAsn",
"transcript": "NM_153704.6",
"protein_id": "NP_714915.3",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 995,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": "ENST00000453321.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2418_2423dupTATGAA",
"hgvs_p": "p.Asn808_Leu809insMetAsn",
"transcript": "ENST00000453321.8",
"protein_id": "ENSP00000389998.3",
"transcript_support_level": 1,
"aa_start": 808,
"aa_end": null,
"aa_length": 995,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": "NM_153704.6",
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.1556_1561dupTATGAA",
"hgvs_p": null,
"transcript": "ENST00000474944.5",
"protein_id": null,
"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": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2322+1173_2322+1178dupTATGAA",
"hgvs_p": null,
"transcript": "ENST00000452276.6",
"protein_id": "ENSP00000388671.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2541_2546dupTATGAA",
"hgvs_p": "p.Asn849_Leu850insMetAsn",
"transcript": "ENST00000520680.2",
"protein_id": "ENSP00000428785.2",
"transcript_support_level": 3,
"aa_start": 849,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2373_2378dupTATGAA",
"hgvs_p": "p.Asn793_Leu794insMetAsn",
"transcript": "ENST00000409623.8",
"protein_id": "ENSP00000386966.4",
"transcript_support_level": 2,
"aa_start": 793,
"aa_end": null,
"aa_length": 980,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2319_2324dupTATGAA",
"hgvs_p": "p.Asn775_Leu776insMetAsn",
"transcript": "ENST00000521517.6",
"protein_id": "ENSP00000430740.2",
"transcript_support_level": 5,
"aa_start": 775,
"aa_end": null,
"aa_length": 962,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2175_2180dupTATGAA",
"hgvs_p": "p.Asn727_Leu728insMetAsn",
"transcript": "NM_001142301.1",
"protein_id": "NP_001135773.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 914,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2109_2114dupTATGAA",
"hgvs_p": "p.Asn705_Leu706insMetAsn",
"transcript": "ENST00000684064.1",
"protein_id": "ENSP00000508192.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 892,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2079_2084dupTATGAA",
"hgvs_p": "p.Asn695_Leu696insMetAsn",
"transcript": "ENST00000683362.1",
"protein_id": "ENSP00000506985.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 882,
"cds_start": 2085,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1659_1664dupTATGAA",
"hgvs_p": "p.Asn555_Leu556insMetAsn",
"transcript": "ENST00000682036.1",
"protein_id": "ENSP00000508390.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 742,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1536_1541dupTATGAA",
"hgvs_p": "p.Asn514_Leu515insMetAsn",
"transcript": "ENST00000453906.6",
"protein_id": "ENSP00000403035.2",
"transcript_support_level": 5,
"aa_start": 514,
"aa_end": null,
"aa_length": 701,
"cds_start": 1542,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.615_620dupTATGAA",
"hgvs_p": "p.Asn207_Leu208insMetAsn",
"transcript": "ENST00000519845.5",
"protein_id": "ENSP00000507620.1",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 394,
"cds_start": 621,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.615_620dupTATGAA",
"hgvs_p": "p.Asn207_Leu208insMetAsn",
"transcript": "ENST00000684343.1",
"protein_id": "ENSP00000507591.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 394,
"cds_start": 621,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2115_2120dupTATGAA",
"hgvs_p": "p.Asn707_Leu708insMetAsn",
"transcript": "XM_006716686.5",
"protein_id": "XP_006716749.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 894,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1764_1769dupTATGAA",
"hgvs_p": "p.Asn590_Leu591insMetAsn",
"transcript": "XM_047422409.1",
"protein_id": "XP_047278365.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 777,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1536_1541dupTATGAA",
"hgvs_p": "p.Asn514_Leu515insMetAsn",
"transcript": "XM_011517363.4",
"protein_id": "XP_011515665.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 701,
"cds_start": 1542,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "NMN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1233_1238dupTATGAA",
"hgvs_p": "p.Asn413_Leu414insMetAsn",
"transcript": "XM_047422410.1",
"protein_id": "XP_047278366.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 600,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3707,
"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": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.2418_2423dupTATGAA",
"hgvs_p": null,
"transcript": "ENST00000323130.8",
"protein_id": "ENSP00000314488.4",
"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": 3296,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*538_*543dupTATGAA",
"hgvs_p": null,
"transcript": "ENST00000518896.2",
"protein_id": "ENSP00000507992.1",
"transcript_support_level": 4,
"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": 2208,
"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": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*1645_*1650dupTATGAA",
"hgvs_p": null,
"transcript": "ENST00000681998.1",
"protein_id": "ENSP00000506773.1",
"transcript_support_level": null,
"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": 3978,
"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": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*1597_*1602dupTATGAA",
"hgvs_p": null,
"transcript": "ENST00000682577.1",
"protein_id": "ENSP00000506963.1",
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Generalized hypotonia;Cerebellar vermis hypoplasia;Iris coloboma;Nystagmus",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}