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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: 2-24205243-GC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24205243&ref=GC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITSN2",
"hgnc_id": 6184,
"hgvs_c": "c.4732_4733delGCinsAG",
"hgvs_p": "p.Ala1578Ser",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_006277.3",
"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": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "S",
"aa_end": null,
"aa_length": 1697,
"aa_ref": "A",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 4999,
"cds_end": null,
"cds_length": 5094,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006277.3",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4732_4733delGCinsAG",
"hgvs_p": "p.Ala1578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355123.9",
"protein_coding": true,
"protein_id": "NP_006268.2",
"strand": false,
"transcript": "NM_006277.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1697,
"aa_ref": "A",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 4999,
"cds_end": null,
"cds_length": 5094,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355123.9",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4732_4733delGCinsAG",
"hgvs_p": "p.Ala1578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006277.3",
"protein_coding": true,
"protein_id": "ENSP00000347244.4",
"strand": false,
"transcript": "ENST00000355123.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "A",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": 4691,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4651,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361999.7",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4651_4652delGCinsAG",
"hgvs_p": "p.Ala1551Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354561.2",
"strand": false,
"transcript": "ENST00000361999.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "A",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6351,
"cdna_start": 5231,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4693,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905943.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4693_4694delGCinsAG",
"hgvs_p": "p.Ala1565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576002.1",
"strand": false,
"transcript": "ENST00000905943.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "A",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6189,
"cdna_start": 5066,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4690,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348181.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4690_4691delGCinsAG",
"hgvs_p": "p.Ala1564Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335110.1",
"strand": false,
"transcript": "NM_001348181.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "A",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 4918,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4651,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_019595.4",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4651_4652delGCinsAG",
"hgvs_p": "p.Ala1551Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_062541.3",
"strand": false,
"transcript": "NM_019595.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1659,
"aa_ref": "A",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5920,
"cdna_start": 4797,
"cds_end": null,
"cds_length": 4980,
"cds_start": 4618,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926830.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4618_4619delGCinsAG",
"hgvs_p": "p.Ala1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596889.1",
"strand": false,
"transcript": "ENST00000926830.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1657,
"aa_ref": "A",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 4879,
"cds_end": null,
"cds_length": 4974,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348182.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4612_4613delGCinsAG",
"hgvs_p": "p.Ala1538Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335111.1",
"strand": false,
"transcript": "NM_001348182.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1657,
"aa_ref": "A",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6270,
"cdna_start": 5150,
"cds_end": null,
"cds_length": 4974,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905942.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4612_4613delGCinsAG",
"hgvs_p": "p.Ala1538Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576001.1",
"strand": false,
"transcript": "ENST00000905942.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1657,
"aa_ref": "A",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6234,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 4974,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926831.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4612_4613delGCinsAG",
"hgvs_p": "p.Ala1538Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596890.1",
"strand": false,
"transcript": "ENST00000926831.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1697,
"aa_ref": "A",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6000,
"cdna_start": 4877,
"cds_end": null,
"cds_length": 5094,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452930.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4732_4733delGCinsAG",
"hgvs_p": "p.Ala1578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308698.1",
"strand": false,
"transcript": "XM_024452930.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1697,
"aa_ref": "A",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 5233,
"cds_end": null,
"cds_length": 5094,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452931.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4732_4733delGCinsAG",
"hgvs_p": "p.Ala1578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308699.1",
"strand": false,
"transcript": "XM_024452931.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1697,
"aa_ref": "A",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 4931,
"cds_end": null,
"cds_length": 5094,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444582.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4732_4733delGCinsAG",
"hgvs_p": "p.Ala1578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300538.1",
"strand": false,
"transcript": "XM_047444582.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "A",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6083,
"cdna_start": 4960,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4693,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452933.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4693_4694delGCinsAG",
"hgvs_p": "p.Ala1565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308701.1",
"strand": false,
"transcript": "XM_024452933.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "A",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 4944,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4690,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452932.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4690_4691delGCinsAG",
"hgvs_p": "p.Ala1564Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308700.1",
"strand": false,
"transcript": "XM_024452932.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "A",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6423,
"cdna_start": 5300,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4690,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444584.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4690_4691delGCinsAG",
"hgvs_p": "p.Ala1564Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300540.1",
"strand": false,
"transcript": "XM_047444584.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "A",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11574,
"cdna_start": 10451,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4690,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444585.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4690_4691delGCinsAG",
"hgvs_p": "p.Ala1564Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300541.1",
"strand": false,
"transcript": "XM_047444585.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "A",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6275,
"cdna_start": 5152,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4651,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452934.2",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4651_4652delGCinsAG",
"hgvs_p": "p.Ala1551Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308702.1",
"strand": false,
"transcript": "XM_024452934.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "A",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 4796,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4651,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444583.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4651_4652delGCinsAG",
"hgvs_p": "p.Ala1551Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300539.1",
"strand": false,
"transcript": "XM_047444583.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "A",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6390,
"cdna_start": 5267,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4651,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444586.1",
"gene_hgnc_id": 6184,
"gene_symbol": "ITSN2",
"hgvs_c": "c.4651_4652delGCinsAG",
"hgvs_p": "p.Ala1551Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300542.1",
"strand": false,
"transcript": "XM_047444586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 929,
"aa_ref": "A",
"aa_start": 810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5165,
"cdna_start": 4042,
"cds_end": null,
"cds_length": 2790,
"cds_start": 2428,
"consequences": [
"missense_variant"
],
"exon_count": 21,
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