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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: 2-174877967-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174877967&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174877967,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000409900.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"transcript": "NM_001822.7",
"protein_id": "NP_001813.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 459,
"cds_start": 422,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "ENST00000409900.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"transcript": "ENST00000409900.9",
"protein_id": "ENSP00000386741.4",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 459,
"cds_start": 422,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "NM_001822.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.115-2102C>T",
"hgvs_p": null,
"transcript": "ENST00000488080.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Pro158Leu",
"transcript": "NM_001371514.1",
"protein_id": "NP_001358443.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 476,
"cds_start": 473,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"transcript": "NM_001371513.1",
"protein_id": "NP_001358442.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 459,
"cds_start": 422,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"transcript": "NM_001025201.4",
"protein_id": "NP_001020372.2",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 433,
"cds_start": 422,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"transcript": "ENST00000409156.7",
"protein_id": "ENSP00000386470.3",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 433,
"cds_start": 422,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Pro5Leu",
"transcript": "ENST00000651246.1",
"protein_id": "ENSP00000498484.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 323,
"cds_start": 14,
"cds_end": null,
"cds_length": 972,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "ENST00000444573.2",
"protein_id": "ENSP00000392603.2",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 238,
"cds_start": 266,
"cds_end": null,
"cds_length": 719,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "ENST00000652434.1",
"protein_id": "ENSP00000498549.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 203,
"cds_start": 383,
"cds_end": null,
"cds_length": 612,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "ENST00000451799.2",
"protein_id": "ENSP00000416316.2",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 164,
"cds_start": 266,
"cds_end": null,
"cds_length": 497,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "ENST00000652208.1",
"protein_id": "ENSP00000498475.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 164,
"cds_start": 266,
"cds_end": null,
"cds_length": 497,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "ENST00000652756.1",
"protein_id": "ENSP00000498281.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 164,
"cds_start": 266,
"cds_end": null,
"cds_length": 497,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "ENST00000490654.1",
"protein_id": "ENSP00000498283.1",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 144,
"cds_start": 266,
"cds_end": null,
"cds_length": 437,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Pro5Leu",
"transcript": "ENST00000651373.1",
"protein_id": "ENSP00000499174.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 82,
"cds_start": 14,
"cds_end": null,
"cds_length": 250,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Pro5Leu",
"transcript": "ENST00000651315.1",
"protein_id": "ENSP00000498692.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 80,
"cds_start": 14,
"cds_end": null,
"cds_length": 245,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 943,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*70C>T",
"hgvs_p": null,
"transcript": "ENST00000469597.2",
"protein_id": "ENSP00000498417.1",
"transcript_support_level": 4,
"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": 646,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*322C>T",
"hgvs_p": null,
"transcript": "ENST00000650734.1",
"protein_id": "ENSP00000498742.1",
"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": 1033,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*336C>T",
"hgvs_p": null,
"transcript": "ENST00000650770.1",
"protein_id": "ENSP00000499036.1",
"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": 959,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.473C>T",
"hgvs_p": null,
"transcript": "ENST00000651063.1",
"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": 681,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.266C>T",
"hgvs_p": null,
"transcript": "ENST00000651580.1",
"protein_id": "ENSP00000498631.1",
"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": 1018,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.266C>T",
"hgvs_p": null,
"transcript": "ENST00000651599.1",
"protein_id": "ENSP00000498535.1",
"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": 1066,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*336C>T",
"hgvs_p": null,
"transcript": "ENST00000651803.1",
"protein_id": "ENSP00000499007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Duane retraction syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}