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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: 7-122113140-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122113140&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AASS",
"hgnc_id": 17366,
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_005763.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.995,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9067195057868958,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005763.4",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000417368.7",
"protein_coding": true,
"protein_id": "NP_005754.2",
"strand": false,
"transcript": "NM_005763.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000417368.7",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005763.4",
"protein_coding": true,
"protein_id": "ENSP00000403768.2",
"strand": false,
"transcript": "ENST00000417368.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000393376.5",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377040.1",
"strand": false,
"transcript": "ENST00000393376.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000358954.6",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "n.1256T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000351834.2",
"strand": false,
"transcript": "ENST00000358954.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000431170.5",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "n.1256T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000414001.1",
"strand": false,
"transcript": "ENST00000431170.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000679511.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505381.1",
"strand": false,
"transcript": "ENST00000679511.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000912146.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582205.1",
"strand": false,
"transcript": "ENST00000912146.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5939,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000912147.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582206.1",
"strand": false,
"transcript": "ENST00000912147.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000912148.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582207.1",
"strand": false,
"transcript": "ENST00000912148.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912149.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582208.1",
"strand": false,
"transcript": "ENST00000912149.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 894,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881844.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551903.1",
"strand": false,
"transcript": "ENST00000881844.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 889,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000962616.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632675.1",
"strand": false,
"transcript": "ENST00000962616.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881845.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551904.1",
"strand": false,
"transcript": "ENST00000881845.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5662,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912145.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582204.1",
"strand": false,
"transcript": "ENST00000912145.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 894,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011515725.3",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514027.1",
"strand": false,
"transcript": "XM_011515725.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 800,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047419710.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275666.1",
"strand": false,
"transcript": "XM_047419710.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 469,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047419711.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Leu419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275667.1",
"strand": false,
"transcript": "XM_047419711.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 414,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": null,
"cds_end": null,
"cds_length": 1245,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473553.5",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "c.-136-11460T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506240.1",
"strand": false,
"transcript": "ENST00000473553.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5721,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000679579.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "n.1256T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505506.1",
"strand": false,
"transcript": "ENST00000679579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000679847.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "n.1256T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505881.1",
"strand": false,
"transcript": "ENST00000679847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000679864.1",
"gene_hgnc_id": 17366,
"gene_symbol": "AASS",
"hgvs_c": "n.1256T>A",
"hgvs_p": null,
"intron_rank": null,
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