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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: 2-27312685-CCAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27312685&ref=CCAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27312685,
"ref": "CCAA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_002437.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "NM_002437.5",
"protein_id": "NP_002428.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 176,
"cds_start": 271,
"cds_end": null,
"cds_length": 531,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": "ENST00000380044.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002437.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000380044.6",
"protein_id": "ENSP00000369383.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 176,
"cds_start": 271,
"cds_end": null,
"cds_length": 531,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": "NM_002437.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380044.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000233545.6",
"protein_id": "ENSP00000233545.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 176,
"cds_start": 271,
"cds_end": null,
"cds_length": 531,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233545.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000403262.6",
"protein_id": "ENSP00000385671.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 171,
"cds_start": 271,
"cds_end": null,
"cds_length": 516,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403262.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.421_423delTTG",
"hgvs_p": "p.Leu141del",
"transcript": "ENST00000911060.1",
"protein_id": "ENSP00000581119.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 226,
"cds_start": 421,
"cds_end": null,
"cds_length": 681,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911060.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.340_342delTTG",
"hgvs_p": "p.Leu114del",
"transcript": "ENST00000931184.1",
"protein_id": "ENSP00000601243.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 199,
"cds_start": 340,
"cds_end": null,
"cds_length": 600,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931184.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.316_318delTTG",
"hgvs_p": "p.Leu106del",
"transcript": "ENST00000405983.5",
"protein_id": "ENSP00000384586.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 191,
"cds_start": 316,
"cds_end": null,
"cds_length": 576,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405983.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.316_318delTTG",
"hgvs_p": "p.Leu106del",
"transcript": "ENST00000931185.1",
"protein_id": "ENSP00000601244.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 191,
"cds_start": 316,
"cds_end": null,
"cds_length": 576,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931185.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000911063.1",
"protein_id": "ENSP00000581122.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 176,
"cds_start": 271,
"cds_end": null,
"cds_length": 531,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911063.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000931181.1",
"protein_id": "ENSP00000601240.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 176,
"cds_start": 271,
"cds_end": null,
"cds_length": 531,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931181.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000931186.1",
"protein_id": "ENSP00000601245.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 176,
"cds_start": 271,
"cds_end": null,
"cds_length": 531,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931186.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.268_270delTTG",
"hgvs_p": "p.Leu90del",
"transcript": "ENST00000931180.1",
"protein_id": "ENSP00000601239.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 175,
"cds_start": 268,
"cds_end": null,
"cds_length": 528,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931180.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.268_270delTTG",
"hgvs_p": "p.Leu90del",
"transcript": "ENST00000949905.1",
"protein_id": "ENSP00000619964.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 175,
"cds_start": 268,
"cds_end": null,
"cds_length": 528,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949905.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000402310.5",
"protein_id": "ENSP00000383955.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 170,
"cds_start": 271,
"cds_end": null,
"cds_length": 513,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402310.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000911062.1",
"protein_id": "ENSP00000581121.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 165,
"cds_start": 271,
"cds_end": null,
"cds_length": 498,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911062.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000931183.1",
"protein_id": "ENSP00000601242.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 165,
"cds_start": 271,
"cds_end": null,
"cds_length": 498,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931183.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000911061.1",
"protein_id": "ENSP00000581120.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 158,
"cds_start": 271,
"cds_end": null,
"cds_length": 477,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911061.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.199_201delTTG",
"hgvs_p": "p.Leu67del",
"transcript": "ENST00000949903.1",
"protein_id": "ENSP00000619962.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 152,
"cds_start": 199,
"cds_end": null,
"cds_length": 459,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949903.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.271_273delTTG",
"hgvs_p": "p.Leu91del",
"transcript": "ENST00000931182.1",
"protein_id": "ENSP00000601241.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 147,
"cds_start": 271,
"cds_end": null,
"cds_length": 444,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931182.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.103_105delTTG",
"hgvs_p": "p.Leu35del",
"transcript": "ENST00000357186.10",
"protein_id": "ENSP00000349713.6",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 120,
"cds_start": 103,
"cds_end": null,
"cds_length": 363,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357186.10"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.199_201delTTG",
"hgvs_p": "p.Leu67del",
"transcript": "ENST00000430991.5",
"protein_id": "ENSP00000406441.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 120,
"cds_start": 199,
"cds_end": null,
"cds_length": 363,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430991.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.193_195delTTG",
"hgvs_p": "p.Leu65del",
"transcript": "ENST00000428910.5",
"protein_id": "ENSP00000405235.1",
"transcript_support_level": 5,
"aa_start": 65,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 5.114,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 6,
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"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002437.5",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": " axonal, type 2EE,Charcot-Marie-Tooth disease,Mitochondrial DNA depletion syndrome,Mitochondrial DNA depletion syndrome 6 (hepatocerebral type),not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:3 LP:2 US:1",
"phenotype_combined": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|not provided|Mitochondrial DNA depletion syndrome|Charcot-Marie-Tooth disease, axonal, type 2EE|Mitochondrial DNA depletion syndrome 6 (hepatocerebral type);Charcot-Marie-Tooth disease, axonal, type 2EE",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}