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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: 7-110886666-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=110886666&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IMMP2L",
"hgnc_id": 14598,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Lys140Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001350961.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 1155,
"alphamissense_prediction": null,
"alphamissense_score": 0.0844,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "IMMP2L-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009037107229232788,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 979,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_032549.4",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405709.7",
"protein_coding": true,
"protein_id": "NP_115938.1",
"strand": false,
"transcript": "NM_032549.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 979,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000405709.7",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032549.4",
"protein_coding": true,
"protein_id": "ENSP00000384966.2",
"strand": false,
"transcript": "ENST00000405709.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 464,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000331762.7",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329553.3",
"strand": false,
"transcript": "ENST00000331762.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "K",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 523,
"cds_end": null,
"cds_length": 612,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001350961.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Lys140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337890.1",
"strand": false,
"transcript": "NM_001350961.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 439,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001244606.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231535.1",
"strand": false,
"transcript": "NM_001244606.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 507,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001350959.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337888.1",
"strand": false,
"transcript": "NM_001350959.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 643,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350960.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337889.1",
"strand": false,
"transcript": "NM_001350960.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 454,
"cds_end": null,
"cds_length": 528,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000452895.5",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399353.1",
"strand": false,
"transcript": "ENST00000452895.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 157,
"aa_ref": "K",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 761,
"cdna_start": 392,
"cds_end": null,
"cds_length": 474,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000450877.5",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Lys94Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402824.1",
"strand": false,
"transcript": "ENST00000450877.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 268,
"aa_ref": "K",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 57703,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 807,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017012699.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Lys140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868188.1",
"strand": false,
"transcript": "XM_017012699.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 268,
"aa_ref": "K",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 57163,
"cdna_start": 523,
"cds_end": null,
"cds_length": 807,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017012700.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Lys140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868189.1",
"strand": false,
"transcript": "XM_017012700.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 240,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 57079,
"cdna_start": 439,
"cds_end": null,
"cds_length": 723,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017012701.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868190.1",
"strand": false,
"transcript": "XM_017012701.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 240,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 57147,
"cdna_start": 507,
"cds_end": null,
"cds_length": 723,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017012702.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868191.1",
"strand": false,
"transcript": "XM_017012702.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 240,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 57619,
"cdna_start": 979,
"cds_end": null,
"cds_length": 723,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420923.1",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276879.1",
"strand": false,
"transcript": "XM_047420923.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 240,
"aa_ref": "K",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 57687,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 723,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420924.1",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276880.1",
"strand": false,
"transcript": "XM_047420924.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "K",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 591,
"cds_end": null,
"cds_length": 612,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047420925.1",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Lys140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276881.1",
"strand": false,
"transcript": "XM_047420925.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 184,
"aa_ref": "K",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 49903,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 555,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017012703.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Lys140Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868192.1",
"strand": false,
"transcript": "XM_017012703.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 156,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 49279,
"cdna_start": 439,
"cds_end": null,
"cds_length": 471,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420926.1",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Lys112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276882.1",
"strand": false,
"transcript": "XM_047420926.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 115,
"aa_ref": "K",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 373,
"cds_end": null,
"cds_length": 348,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047420928.1",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276884.1",
"strand": false,
"transcript": "XM_047420928.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 104,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": null,
"cds_end": null,
"cds_length": 315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350963.2",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.305+76834A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337892.1",
"strand": false,
"transcript": "NM_001350963.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": null,
"cds_end": null,
"cds_length": 399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516609.3",
"gene_hgnc_id": 14598,
"gene_symbol": "IMMP2L",
"hgvs_c": "c.389+76834A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
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