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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: 3-50300503-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50300503&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50300503,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033159.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "NM_033159.4",
"protein_id": "NP_149349.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395144.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033159.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000395144.7",
"protein_id": "ENSP00000378576.2",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033159.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395144.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000266031.8",
"protein_id": "ENSP00000266031.4",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266031.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000395143.6",
"protein_id": "ENSP00000378575.2",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 405,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395143.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Glu248Lys",
"transcript": "ENST00000457214.6",
"protein_id": "ENSP00000393358.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 253,
"cds_start": 742,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457214.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Glu171Lys",
"transcript": "ENST00000447605.2",
"protein_id": "ENSP00000390149.2",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 176,
"cds_start": 511,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447605.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "NM_153281.2",
"protein_id": "NP_695013.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153281.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000320295.12",
"protein_id": "ENSP00000346068.5",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320295.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000618175.4",
"protein_id": "ENSP00000477903.1",
"transcript_support_level": 5,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618175.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000907772.1",
"protein_id": "ENSP00000577831.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907772.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000907773.1",
"protein_id": "ENSP00000577832.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907773.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000907774.1",
"protein_id": "ENSP00000577833.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907774.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000907776.1",
"protein_id": "ENSP00000577835.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907776.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Glu421Lys",
"transcript": "ENST00000907777.1",
"protein_id": "ENSP00000577836.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 426,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907777.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Glu421Lys",
"transcript": "ENST00000907778.1",
"protein_id": "ENSP00000577837.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 426,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907778.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "NM_153282.3",
"protein_id": "NP_695014.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 405,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153282.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000907775.1",
"protein_id": "ENSP00000577834.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 405,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907775.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys",
"transcript": "ENST00000907779.1",
"protein_id": "ENSP00000577838.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 375,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907779.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Glu248Lys",
"transcript": "NM_153283.3",
"protein_id": "NP_695015.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 253,
"cds_start": 742,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153283.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Glu171Lys",
"transcript": "NM_153285.3",
"protein_id": "NP_695017.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 176,
"cds_start": 511,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153285.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "XM_011533668.3",
"protein_id": "XP_011531970.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 435,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533668.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "n.1906G>A",
"hgvs_p": null,
"transcript": "NR_047690.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_047690.2"
}
],
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"dbsnp": "rs782458470",
"frequency_reference_population": 6.840563e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84056e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12318134307861328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.167,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033159.4",
"gene_symbol": "HYAL1",
"hgnc_id": 5320,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}