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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: 19-5657292-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5657292&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5657292,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001201338.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "NM_001201338.2",
"protein_id": "NP_001188267.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 917,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000588852.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201338.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000588852.2",
"protein_id": "ENSP00000467423.1",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 917,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201338.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588852.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000592224.5",
"protein_id": "ENSP00000464840.1",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 916,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592224.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000292123.9",
"protein_id": "ENSP00000292123.4",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 915,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292123.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000970177.1",
"protein_id": "ENSP00000640236.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 961,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970177.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000934691.1",
"protein_id": "ENSP00000604750.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 960,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934691.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000970185.1",
"protein_id": "ENSP00000640244.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 959,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970185.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Val636Met",
"transcript": "ENST00000880699.1",
"protein_id": "ENSP00000550758.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 949,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880699.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Val636Met",
"transcript": "ENST00000970182.1",
"protein_id": "ENSP00000640241.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 948,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970182.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "NM_001201339.2",
"protein_id": "NP_001188268.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 916,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201339.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Val602Met",
"transcript": "ENST00000934687.1",
"protein_id": "ENSP00000604746.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 916,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934687.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Val602Met",
"transcript": "ENST00000970175.1",
"protein_id": "ENSP00000640234.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 916,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970175.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "NM_002967.4",
"protein_id": "NP_002958.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 915,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002967.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Val602Met",
"transcript": "ENST00000970176.1",
"protein_id": "ENSP00000640235.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 915,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970176.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "NM_001320572.2",
"protein_id": "NP_001307501.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 914,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320572.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000880693.1",
"protein_id": "ENSP00000550752.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 914,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880693.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000934690.1",
"protein_id": "ENSP00000604749.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 914,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934690.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Val602Met",
"transcript": "ENST00000970178.1",
"protein_id": "ENSP00000640237.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 914,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970178.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Val602Met",
"transcript": "ENST00000970188.1",
"protein_id": "ENSP00000640247.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 914,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970188.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000970173.1",
"protein_id": "ENSP00000640232.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 913,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970173.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met",
"transcript": "ENST00000970187.1",
"protein_id": "ENSP00000640246.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 909,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970187.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Val592Met",
"transcript": "ENST00000970180.1",
"protein_id": "ENSP00000640239.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 906,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.623,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001201338.2",
"gene_symbol": "SAFB",
"hgnc_id": 10520,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Met"
}
],
"clinvar_disease": "not specified",
"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
}