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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: 6-31863707-A-AGGGCCGGTCCAGGGAGCCGTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31863707&ref=A&alt=AGGGCCGGTCCAGGGAGCCGTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31863707,
"ref": "A",
"alt": "AGGGCCGGTCCAGGGAGCCGTT",
"effect": "conservative_inframe_insertion",
"transcript": "NM_025257.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2032_2052dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro684_Tyr685insAsnGlySerLeuAspArgPro",
"transcript": "NM_025257.3",
"protein_id": "NP_079533.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 710,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229729.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025257.3"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2032_2052dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro684_Tyr685insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000229729.11",
"protein_id": "ENSP00000229729.6",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 710,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025257.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229729.11"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2098_2118dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro706_Tyr707insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000882851.1",
"protein_id": "ENSP00000552910.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 732,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882851.1"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2065_2085dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro695_Tyr696insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000882853.1",
"protein_id": "ENSP00000552912.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 721,
"cds_start": 2085,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882853.1"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2056_2076dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro692_Tyr693insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000882852.1",
"protein_id": "ENSP00000552911.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 718,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882852.1"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2017_2037dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro679_Tyr680insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000882849.1",
"protein_id": "ENSP00000552908.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 705,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882849.1"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.2017_2037dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro679_Tyr680insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000882850.1",
"protein_id": "ENSP00000552909.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 705,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882850.1"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.1906_1926dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro642_Tyr643insAsnGlySerLeuAspArgPro",
"transcript": "NM_001178044.2",
"protein_id": "NP_001171515.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 668,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178044.2"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.1906_1926dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro642_Tyr643insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000375562.8",
"protein_id": "ENSP00000364712.4",
"transcript_support_level": 2,
"aa_start": 642,
"aa_end": null,
"aa_length": 668,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375562.8"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.1804_1824dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro608_Tyr609insAsnGlySerLeuAspArgPro",
"transcript": "NM_001178045.2",
"protein_id": "NP_001171516.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 634,
"cds_start": 1824,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178045.2"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.1804_1824dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro608_Tyr609insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000544672.5",
"protein_id": "ENSP00000444109.1",
"transcript_support_level": 2,
"aa_start": 608,
"aa_end": null,
"aa_length": 634,
"cds_start": 1824,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544672.5"
},
{
"aa_ref": "P",
"aa_alt": "PNGSLDRP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.1612_1632dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro544_Tyr545insAsnGlySerLeuAspArgPro",
"transcript": "ENST00000925858.1",
"protein_id": "ENSP00000595917.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 570,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "n.241_261dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": null,
"transcript": "ENST00000487680.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000487680.1"
}
],
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"dbsnp": "rs755752282",
"frequency_reference_population": 0.000014884477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157488,
"gnomad_genomes_af": 0.00000657947,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.661,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_025257.3",
"gene_symbol": "SLC44A4",
"hgnc_id": 13941,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2032_2052dupAACGGCTCCCTGGACCGGCCC",
"hgvs_p": "p.Pro684_Tyr685insAsnGlySerLeuAspArgPro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}