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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: 1-84655845-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=84655845&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 84655845,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014021.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "NM_001166293.2",
"protein_id": "NP_001159765.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342203.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166293.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000342203.8",
"protein_id": "ENSP00000340279.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166293.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342203.8"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.-54-3848G>T",
"hgvs_p": null,
"transcript": "ENST00000603677.1",
"protein_id": "ENSP00000473763.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603677.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "n.1364G>T",
"hgvs_p": null,
"transcript": "ENST00000476905.6",
"protein_id": "ENSP00000474925.1",
"transcript_support_level": 2,
"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": "ENST00000476905.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000917144.1",
"protein_id": "ENSP00000587203.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 636,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917144.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1373G>T",
"hgvs_p": "p.Arg458Leu",
"transcript": "ENST00000917148.1",
"protein_id": "ENSP00000587207.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 635,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917148.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1388G>T",
"hgvs_p": "p.Arg463Leu",
"transcript": "ENST00000942531.1",
"protein_id": "ENSP00000612590.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 618,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942531.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Arg462Leu",
"transcript": "ENST00000917145.1",
"protein_id": "ENSP00000587204.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 617,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917145.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Arg462Leu",
"transcript": "ENST00000942533.1",
"protein_id": "ENSP00000612592.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 617,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942533.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "NM_001166417.2",
"protein_id": "NP_001159889.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166417.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "NM_014021.4",
"protein_id": "NP_054740.3",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014021.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000869156.1",
"protein_id": "ENSP00000539215.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869156.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000869163.1",
"protein_id": "ENSP00000539222.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869163.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000869166.1",
"protein_id": "ENSP00000539225.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869166.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000869167.1",
"protein_id": "ENSP00000539226.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869167.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000917146.1",
"protein_id": "ENSP00000587205.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917146.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000917147.1",
"protein_id": "ENSP00000587206.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917147.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000917149.1",
"protein_id": "ENSP00000587208.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917149.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1376G>T",
"hgvs_p": "p.Arg459Leu",
"transcript": "ENST00000942530.1",
"protein_id": "ENSP00000612589.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 614,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942530.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1373G>T",
"hgvs_p": "p.Arg458Leu",
"transcript": "ENST00000869158.1",
"protein_id": "ENSP00000539216.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 613,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869158.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1373G>T",
"hgvs_p": "p.Arg458Leu",
"transcript": "ENST00000869159.1",
"protein_id": "ENSP00000539218.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 613,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869159.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSX2IP",
"gene_hgnc_id": 16509,
"hgvs_c": "c.1373G>T",
"hgvs_p": "p.Arg458Leu",
"transcript": "ENST00000869161.1",
"protein_id": "ENSP00000539220.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 613,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1842,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}