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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: 4-185374324-AG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=185374324&ref=AG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRP2BP",
"hgnc_id": 25434,
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_018409.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SNX25",
"hgnc_id": 21883,
"hgvs_c": "n.242+3259_242+3260delAGinsTA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000514884.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5519,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377440.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000505916.6",
"protein_coding": true,
"protein_id": "NP_001364369.1",
"strand": false,
"transcript": "NM_001377440.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5519,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505916.6",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001377440.1",
"protein_coding": true,
"protein_id": "ENSP00000426203.1",
"strand": false,
"transcript": "ENST00000505916.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000328559.11",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000332681.7",
"strand": false,
"transcript": "ENST00000328559.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 966,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510776.5",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.389_390delCTinsTA",
"hgvs_p": "p.Ala130Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424610.1",
"strand": false,
"transcript": "ENST00000510776.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4808,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385601.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372530.1",
"strand": false,
"transcript": "NM_001385601.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018409.4",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060879.2",
"strand": false,
"transcript": "NM_018409.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4812,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927575.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597634.1",
"strand": false,
"transcript": "ENST00000927575.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943162.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613221.1",
"strand": false,
"transcript": "ENST00000943162.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943163.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613222.1",
"strand": false,
"transcript": "ENST00000943163.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 346,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1041,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385602.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.464_465delCTinsTA",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372531.1",
"strand": false,
"transcript": "NM_001385602.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 346,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1041,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904434.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.464_465delCTinsTA",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574493.1",
"strand": false,
"transcript": "ENST00000904434.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 268,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 807,
"cds_start": 467,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385603.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372532.1",
"strand": false,
"transcript": "NM_001385603.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 268,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 807,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385604.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372533.1",
"strand": false,
"transcript": "NM_001385604.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 750,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377441.3",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.173_174delCTinsTA",
"hgvs_p": "p.Ala58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364370.2",
"strand": false,
"transcript": "NM_001377441.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4571,
"cdna_start": 687,
"cds_end": null,
"cds_length": 750,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377442.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.173_174delCTinsTA",
"hgvs_p": "p.Ala58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364371.1",
"strand": false,
"transcript": "NM_001377442.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 797,
"cds_end": null,
"cds_length": 750,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377443.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.173_174delCTinsTA",
"hgvs_p": "p.Ala58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364372.1",
"strand": false,
"transcript": "NM_001377443.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 750,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385605.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.173_174delCTinsTA",
"hgvs_p": "p.Ala58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372534.1",
"strand": false,
"transcript": "NM_001385605.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 684,
"cds_end": null,
"cds_length": 747,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385606.1",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.170_171delCTinsTA",
"hgvs_p": "p.Ala57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372535.1",
"strand": false,
"transcript": "NM_001385606.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 22163,
"cdna_start": 18279,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017008410.3",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863899.1",
"strand": false,
"transcript": "XM_017008410.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 22029,
"cdna_start": 18145,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024454134.2",
"gene_hgnc_id": 25434,
"gene_symbol": "LRP2BP",
"hgvs_c": "c.467_468delCTinsTA",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309902.1",
"strand": false,
"transcript": "XM_024454134.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21914,
"cdna_start": 18030,
"cds_end": null,
"cds_length": 1044,
"cds_start": 467,
"consequences": [
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