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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: 2-201707927-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201707927&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201707927,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264276.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "NM_020919.4",
"protein_id": "NP_065970.2",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4462,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "ENST00000264276.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000264276.11",
"protein_id": "ENSP00000264276.6",
"transcript_support_level": 1,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4462,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "NM_020919.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4447G>A",
"hgvs_p": "p.Glu1483Lys",
"transcript": "ENST00000680497.1",
"protein_id": "ENSP00000505954.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1691,
"cds_start": 4447,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 4705,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000679516.1",
"protein_id": "ENSP00000505187.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4603,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000680163.1",
"protein_id": "ENSP00000505092.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4729,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000680861.1",
"protein_id": "ENSP00000505043.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4836,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4342G>A",
"hgvs_p": "p.Glu1448Lys",
"transcript": "NM_001410975.1",
"protein_id": "NP_001397904.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4342,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 4459,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4342G>A",
"hgvs_p": "p.Glu1448Lys",
"transcript": "ENST00000681619.1",
"protein_id": "ENSP00000505071.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4342,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 4684,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000680000.1",
"protein_id": "ENSP00000506173.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 4687,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000680814.1",
"protein_id": "ENSP00000505710.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4687,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4177G>A",
"hgvs_p": "p.Glu1393Lys",
"transcript": "ENST00000680759.1",
"protein_id": "ENSP00000505848.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1601,
"cds_start": 4177,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 4519,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "ENST00000681808.1",
"protein_id": "ENSP00000505219.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1598,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4797,
"cdna_start": 4687,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2023G>A",
"hgvs_p": "p.Glu675Lys",
"transcript": "ENST00000681558.1",
"protein_id": "ENSP00000505568.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 883,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Glu628Lys",
"transcript": "ENST00000681495.1",
"protein_id": "ENSP00000506085.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 836,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Glu1449Lys",
"transcript": "XM_006712654.4",
"protein_id": "XP_006712717.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 5360,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Glu1336Lys",
"transcript": "XM_047445224.1",
"protein_id": "XP_047301180.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 4412,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_006712655.4",
"protein_id": "XP_006712718.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 969,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"transcript": "XM_017004572.3",
"protein_id": "XP_016860061.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 863,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"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": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000439495.6",
"protein_id": "ENSP00000403832.2",
"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": 4499,
"mane_select": null,
"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": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*815G>A",
"hgvs_p": null,
"transcript": "ENST00000679409.1",
"protein_id": "ENSP00000506531.1",
"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": 7039,
"mane_select": null,
"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": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.5849G>A",
"hgvs_p": null,
"transcript": "ENST00000679416.1",
"protein_id": null,
"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": 7763,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.1781G>A",
"hgvs_p": null,
"transcript": "ENST00000679427.1",
"protein_id": null,
"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": 6134,
"mane_select": null,
"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": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.4345G>A",
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{
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"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Infantile-onset ascending hereditary spastic paralysis|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}