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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: 14-37270445-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=37270445&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 37270445,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001388069.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "NM_001388067.1",
"protein_id": "NP_001374996.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 442,
"cds_start": 413,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684589.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388067.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000684589.1",
"protein_id": "ENSP00000506738.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 442,
"cds_start": 413,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388067.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684589.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000327441.11",
"protein_id": "ENSP00000333539.7",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 442,
"cds_start": 413,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327441.11"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000396294.7",
"protein_id": "ENSP00000379589.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 442,
"cds_start": 413,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396294.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Asp107Gly",
"transcript": "ENST00000556451.5",
"protein_id": "ENSP00000450479.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 424,
"cds_start": 320,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556451.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Asp107Gly",
"transcript": "ENST00000539062.6",
"protein_id": "ENSP00000438319.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 411,
"cds_start": 320,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539062.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Asp88Gly",
"transcript": "ENST00000539174.3",
"protein_id": "ENSP00000511996.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 119,
"cds_start": 263,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539174.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "n.320A>G",
"hgvs_p": null,
"transcript": "ENST00000555870.5",
"protein_id": "ENSP00000452478.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000555870.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "NM_001388069.1",
"protein_id": "NP_001374998.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 519,
"cds_start": 413,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388069.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000694964.1",
"protein_id": "ENSP00000511967.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 519,
"cds_start": 413,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694964.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000931731.1",
"protein_id": "ENSP00000601790.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 502,
"cds_start": 413,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931731.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000909324.1",
"protein_id": "ENSP00000579383.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 489,
"cds_start": 413,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909324.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000909326.1",
"protein_id": "ENSP00000579385.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 489,
"cds_start": 413,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909326.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000909329.1",
"protein_id": "ENSP00000579388.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 489,
"cds_start": 413,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909329.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000971101.1",
"protein_id": "ENSP00000641160.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 489,
"cds_start": 413,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971101.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000971106.1",
"protein_id": "ENSP00000641165.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 489,
"cds_start": 413,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971106.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000971108.1",
"protein_id": "ENSP00000641167.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 489,
"cds_start": 413,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971108.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Asp107Gly",
"transcript": "ENST00000694965.1",
"protein_id": "ENSP00000511968.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 488,
"cds_start": 320,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694965.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000971099.1",
"protein_id": "ENSP00000641158.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 458,
"cds_start": 413,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971099.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000909325.1",
"protein_id": "ENSP00000579384.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 455,
"cds_start": 413,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909325.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000909322.1",
"protein_id": "ENSP00000579381.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 453,
"cds_start": 413,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909322.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPOL1",
"gene_hgnc_id": 21460,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asp138Gly",
"transcript": "ENST00000694961.1",
"protein_id": "ENSP00000511993.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 451,
"cds_start": 413,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694961.1"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}