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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: 20-36762474-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36762474&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36762474,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024918.4",
"consequences": [
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "NM_001145315.2",
"protein_id": "NP_001138787.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373750.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145315.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000373750.9",
"protein_id": "ENSP00000362855.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145315.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373750.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "n.960G>A",
"hgvs_p": null,
"transcript": "ENST00000480153.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000480153.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "NM_001145316.2",
"protein_id": "NP_001138788.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145316.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "NM_024918.4",
"protein_id": "NP_079194.3",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024918.4"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000426836.5",
"protein_id": "ENSP00000389810.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426836.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000863304.1",
"protein_id": "ENSP00000533363.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863304.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000863306.1",
"protein_id": "ENSP00000533365.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863306.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000925982.1",
"protein_id": "ENSP00000596041.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925982.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000925993.1",
"protein_id": "ENSP00000596052.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925993.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000963379.1",
"protein_id": "ENSP00000633438.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 356,
"cds_start": 577,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963379.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000925983.1",
"protein_id": "ENSP00000596042.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 355,
"cds_start": 577,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925983.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Glu187Lys",
"transcript": "ENST00000863309.1",
"protein_id": "ENSP00000533368.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 350,
"cds_start": 559,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863309.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000863305.1",
"protein_id": "ENSP00000533364.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 541,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863305.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000863308.1",
"protein_id": "ENSP00000533367.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 541,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863308.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000925991.1",
"protein_id": "ENSP00000596050.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 541,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925991.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Glu177Lys",
"transcript": "NM_001145318.2",
"protein_id": "NP_001138790.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 340,
"cds_start": 529,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145318.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Glu177Lys",
"transcript": "ENST00000448110.6",
"protein_id": "ENSP00000404463.1",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 340,
"cds_start": 529,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448110.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000925992.1",
"protein_id": "ENSP00000596051.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 337,
"cds_start": 520,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925992.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000925990.1",
"protein_id": "ENSP00000596049.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 311,
"cds_start": 577,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925990.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Glu144Lys",
"transcript": "ENST00000925988.1",
"protein_id": "ENSP00000596047.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 307,
"cds_start": 430,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925988.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Glu132Lys",
"transcript": "ENST00000925985.1",
"protein_id": "ENSP00000596044.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 295,
"cds_start": 394,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925985.1"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}