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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: 4-79984831-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=79984831&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ANTXR2",
"hgnc_id": 21732,
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001145794.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hyaline fibromatosis syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_058172.6",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403729.7",
"protein_coding": true,
"protein_id": "NP_477520.2",
"strand": false,
"transcript": "NM_058172.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000403729.7",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_058172.6",
"protein_coding": true,
"protein_id": "ENSP00000385575.2",
"strand": false,
"transcript": "ENST00000403729.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000307333.7",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306185.6",
"strand": false,
"transcript": "ENST00000307333.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1236,
"cds_start": 842,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000404191.5",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.842delC",
"hgvs_p": "p.Pro281fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384028.1",
"strand": false,
"transcript": "ENST00000404191.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 386,
"aa_ref": "P",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1161,
"cds_start": 764,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000346652.10",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.764delC",
"hgvs_p": "p.Pro255fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314883.6",
"strand": false,
"transcript": "ENST00000346652.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 505,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000680913.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505640.1",
"strand": false,
"transcript": "ENST00000680913.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": "P",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1097,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000958991.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1097delC",
"hgvs_p": "p.Pro366fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629050.1",
"strand": false,
"transcript": "ENST00000958991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001145794.2",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139266.1",
"strand": false,
"transcript": "NM_001145794.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681115.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505618.1",
"strand": false,
"transcript": "ENST00000681115.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4420,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000958987.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629046.1",
"strand": false,
"transcript": "ENST00000958987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 487,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000958986.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629045.1",
"strand": false,
"transcript": "ENST00000958986.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1070,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000958990.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1070delC",
"hgvs_p": "p.Pro357fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629049.1",
"strand": false,
"transcript": "ENST00000958990.1",
"transcript_support_level": null
},
{
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"aa_length": 480,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 1559,
"cds_end": null,
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"cds_start": 1049,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000958993.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1049delC",
"hgvs_p": "p.Pro350fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629052.1",
"strand": false,
"transcript": "ENST00000958993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1001,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000958988.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1001delC",
"hgvs_p": "p.Pro334fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629047.1",
"strand": false,
"transcript": "ENST00000958988.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 457,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1073,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000958992.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1073delC",
"hgvs_p": "p.Pro358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629051.1",
"strand": false,
"transcript": "ENST00000958992.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 456,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1371,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000875745.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.977delC",
"hgvs_p": "p.Pro326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545804.1",
"strand": false,
"transcript": "ENST00000875745.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 455,
"aa_ref": "P",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1368,
"cds_start": 974,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000958989.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.974delC",
"hgvs_p": "p.Pro325fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629048.1",
"strand": false,
"transcript": "ENST00000958989.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 411,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7676,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1236,
"cds_start": 842,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001286780.2",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.842delC",
"hgvs_p": "p.Pro281fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273709.1",
"strand": false,
"transcript": "NM_001286780.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8119,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1236,
"cds_start": 842,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001286781.2",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.842delC",
"hgvs_p": "p.Pro281fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273710.1",
"strand": false,
"transcript": "NM_001286781.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 411,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1236,
"cds_start": 842,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681710.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.842delC",
"hgvs_p": "p.Pro281fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505865.1",
"strand": false,
"transcript": "ENST00000681710.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875744.1",
"gene_hgnc_id": 21732,
"gene_symbol": "ANTXR2",
"hgvs_c": "c.1042-6658delC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545803.1",
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"transcript": "ENST00000875744.1",
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]
}