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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: 2-38748122-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38748122&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 38748122,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001031684.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "NM_001031684.3",
"protein_id": "NP_001026854.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 238,
"cds_start": 497,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313117.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031684.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000313117.11",
"protein_id": "ENSP00000325905.6",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 238,
"cds_start": 497,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031684.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313117.11"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"transcript": "ENST00000926871.1",
"protein_id": "ENSP00000596930.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 236,
"cds_start": 491,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926871.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "NM_001363802.1",
"protein_id": "NP_001350731.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 235,
"cds_start": 497,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363802.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000409276.5",
"protein_id": "ENSP00000386806.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 235,
"cds_start": 497,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409276.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000908961.1",
"protein_id": "ENSP00000579020.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 233,
"cds_start": 497,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908961.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"transcript": "ENST00000926872.1",
"protein_id": "ENSP00000596931.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 233,
"cds_start": 491,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926872.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000926876.1",
"protein_id": "ENSP00000596935.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 497,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926876.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000926875.1",
"protein_id": "ENSP00000596934.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 227,
"cds_start": 497,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926875.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "NM_001195446.2",
"protein_id": "NP_001182375.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 226,
"cds_start": 497,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195446.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000446327.6",
"protein_id": "ENSP00000402264.2",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 226,
"cds_start": 497,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446327.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"transcript": "ENST00000926870.1",
"protein_id": "ENSP00000596929.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 224,
"cds_start": 491,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926870.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000908960.1",
"protein_id": "ENSP00000579019.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 223,
"cds_start": 497,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908960.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"transcript": "ENST00000926877.1",
"protein_id": "ENSP00000596936.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 221,
"cds_start": 491,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926877.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Ile141Thr",
"transcript": "ENST00000908962.1",
"protein_id": "ENSP00000579021.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 213,
"cds_start": 422,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908962.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.146T>C",
"hgvs_p": "p.Ile49Thr",
"transcript": "ENST00000452806.5",
"protein_id": "ENSP00000392300.1",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 109,
"cds_start": 146,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452806.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "XM_005264485.3",
"protein_id": "XP_005264542.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 223,
"cds_start": 497,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264485.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.146T>C",
"hgvs_p": "p.Ile49Thr",
"transcript": "XM_011533032.3",
"protein_id": "XP_011531334.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 121,
"cds_start": 146,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533032.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.462-13T>C",
"hgvs_p": null,
"transcript": "ENST00000908964.1",
"protein_id": "ENSP00000579023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.462-13T>C",
"hgvs_p": null,
"transcript": "ENST00000926879.1",
"protein_id": "ENSP00000596938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.462-13T>C",
"hgvs_p": null,
"transcript": "ENST00000908963.1",
"protein_id": "ENSP00000579022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRSF7",
"gene_hgnc_id": 10789,
"hgvs_c": "c.461+457T>C",
"hgvs_p": null,
"transcript": "ENST00000926874.1",
"protein_id": "ENSP00000596933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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"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
}