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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: 2-201724392-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201724392&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201724392,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000264276.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "NM_020919.4",
"protein_id": "NP_065970.2",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1657,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "ENST00000264276.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000264276.11",
"protein_id": "ENSP00000264276.6",
"transcript_support_level": 1,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1657,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "NM_020919.4",
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.4183C>T",
"hgvs_p": null,
"transcript": "ENST00000482891.6",
"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": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3517C>T",
"hgvs_p": "p.Arg1173*",
"transcript": "ENST00000680497.1",
"protein_id": "ENSP00000505954.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1691,
"cds_start": 3517,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000679516.1",
"protein_id": "ENSP00000505187.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1657,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000680163.1",
"protein_id": "ENSP00000505092.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1657,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3799,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000680861.1",
"protein_id": "ENSP00000505043.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1657,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3906,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "NM_001410975.1",
"protein_id": "NP_001397904.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1656,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000681619.1",
"protein_id": "ENSP00000505071.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1656,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000680000.1",
"protein_id": "ENSP00000506173.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1651,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000680814.1",
"protein_id": "ENSP00000505710.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1614,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000680759.1",
"protein_id": "ENSP00000505848.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1601,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000681808.1",
"protein_id": "ENSP00000505219.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1598,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4797,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000681152.1",
"protein_id": "ENSP00000505388.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3415,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 4375,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "ENST00000681303.1",
"protein_id": "ENSP00000505576.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3415,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 3555,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365*",
"transcript": "ENST00000681558.1",
"protein_id": "ENSP00000505568.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 883,
"cds_start": 1093,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319*",
"transcript": "ENST00000681495.1",
"protein_id": "ENSP00000506085.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 836,
"cds_start": 955,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "XM_006712654.4",
"protein_id": "XP_006712717.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1657,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4430,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3076C>T",
"hgvs_p": "p.Arg1026*",
"transcript": "XM_047445224.1",
"protein_id": "XP_047301180.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1544,
"cds_start": 3076,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "XM_017004570.3",
"protein_id": "XP_016860059.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "XM_047445238.1",
"protein_id": "XP_047301194.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139*",
"transcript": "XM_047445241.1",
"protein_id": "XP_047301197.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3415,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Arg451*",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Pathogenic",
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{
"score": 18,
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"pathogenic_score": 18,
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"verdict": "Pathogenic",
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"inheritance_mode": "AR",
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],
"clinvar_disease": " juvenile,Amyotrophic lateral sclerosis type 2,Inborn genetic diseases,Infantile-onset ascending hereditary spastic paralysis,Juvenile primary lateral sclerosis,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "not provided|Inborn genetic diseases|Amyotrophic lateral sclerosis type 2, juvenile|Infantile-onset ascending hereditary spastic paralysis|Amyotrophic lateral sclerosis type 2, juvenile;Infantile-onset ascending hereditary spastic paralysis;Juvenile primary lateral sclerosis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}