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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: 2-201711098-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201711098&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201711098,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_020919.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "NM_020919.4",
"protein_id": "NP_065970.2",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4132,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "ENST00000264276.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020919.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000264276.11",
"protein_id": "ENSP00000264276.6",
"transcript_support_level": 1,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4132,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "NM_020919.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264276.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4117C>T",
"hgvs_p": "p.Leu1373Leu",
"transcript": "ENST00000680497.1",
"protein_id": "ENSP00000505954.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1691,
"cds_start": 4117,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 4375,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680497.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4108C>T",
"hgvs_p": "p.Leu1370Leu",
"transcript": "ENST00000905985.1",
"protein_id": "ENSP00000576044.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4108,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905985.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000679516.1",
"protein_id": "ENSP00000505187.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4273,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679516.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000680163.1",
"protein_id": "ENSP00000505092.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4399,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680163.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000680861.1",
"protein_id": "ENSP00000505043.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4506,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680861.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000925368.1",
"protein_id": "ENSP00000595427.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4880,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925368.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000942930.1",
"protein_id": "ENSP00000612989.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4153,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942930.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4012C>T",
"hgvs_p": "p.Leu1338Leu",
"transcript": "NM_001410975.1",
"protein_id": "NP_001397904.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4012,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410975.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4012C>T",
"hgvs_p": "p.Leu1338Leu",
"transcript": "ENST00000681619.1",
"protein_id": "ENSP00000505071.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4012,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 4354,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681619.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000680000.1",
"protein_id": "ENSP00000506173.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 4357,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680000.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000680814.1",
"protein_id": "ENSP00000505710.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4357,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680814.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Leu1283Leu",
"transcript": "ENST00000680759.1",
"protein_id": "ENSP00000505848.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1601,
"cds_start": 3847,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680759.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "ENST00000681808.1",
"protein_id": "ENSP00000505219.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1598,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4797,
"cdna_start": 4357,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681808.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Leu1044Leu",
"transcript": "ENST00000942931.1",
"protein_id": "ENSP00000612990.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942931.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Leu565Leu",
"transcript": "ENST00000681558.1",
"protein_id": "ENSP00000505568.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 883,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681558.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"transcript": "ENST00000681495.1",
"protein_id": "ENSP00000506085.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 836,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681495.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu",
"transcript": "XM_006712654.4",
"protein_id": "XP_006712717.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 5030,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712654.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.3676C>T",
"hgvs_p": "p.Leu1226Leu",
"transcript": "XM_047445224.1",
"protein_id": "XP_047301180.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1544,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 4082,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445224.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1951C>T",
"hgvs_p": "p.Leu651Leu",
"transcript": "XM_006712655.4",
"protein_id": "XP_006712718.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 969,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712655.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Leu545Leu",
"transcript": "XM_017004572.3",
"protein_id": "XP_016860061.1",
"transcript_support_level": null,
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"frequency_reference_population": 0.9218,
"hom_count_reference_population": 679627,
"allele_count_reference_population": 1472688,
"gnomad_exomes_af": 0.924707,
"gnomad_genomes_af": 0.894186,
"gnomad_exomes_ac": 1336609,
"gnomad_genomes_ac": 136079,
"gnomad_exomes_homalt": 618575,
"gnomad_genomes_homalt": 61052,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.009,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020919.4",
"gene_symbol": "ALS2",
"hgnc_id": 443,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4015C>T",
"hgvs_p": "p.Leu1339Leu"
}
],
"clinvar_disease": " juvenile,ALS2-related disorder,Amyotrophic lateral sclerosis type 2,Infantile-onset ascending hereditary spastic paralysis,Juvenile primary lateral sclerosis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:10",
"phenotype_combined": "not specified|Amyotrophic lateral sclerosis type 2, juvenile|ALS2-related disorder|not provided|Juvenile primary lateral sclerosis|Infantile-onset ascending hereditary spastic paralysis",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}