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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: 11-62789092-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62789092&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM179B",
"hgnc_id": 33744,
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_199337.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMEM223",
"hgnc_id": 28464,
"hgvs_c": "c.317-1167G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000525631.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1108,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03552725911140442,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 219,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 196,
"cds_end": null,
"cds_length": 660,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_199337.3",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333449.9",
"protein_coding": true,
"protein_id": "NP_955369.1",
"strand": true,
"transcript": "NM_199337.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 219,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 196,
"cds_end": null,
"cds_length": 660,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000333449.9",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_199337.3",
"protein_coding": true,
"protein_id": "ENSP00000333697.3",
"strand": true,
"transcript": "ENST00000333449.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 106,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": null,
"cds_end": null,
"cds_length": 321,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525631.1",
"gene_hgnc_id": 28464,
"gene_symbol": "TMEM223",
"hgvs_c": "c.317-1167G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436670.1",
"strand": false,
"transcript": "ENST00000525631.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 214,
"cds_end": null,
"cds_length": 696,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892244.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.202C>A",
"hgvs_p": "p.Arg68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562303.1",
"strand": true,
"transcript": "ENST00000892244.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1001,
"cdna_start": 196,
"cds_end": null,
"cds_length": 618,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363600.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350529.1",
"strand": true,
"transcript": "NM_001363600.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 199,
"cds_end": null,
"cds_length": 618,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892243.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562302.1",
"strand": true,
"transcript": "ENST00000892243.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 174,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 756,
"cdna_start": 201,
"cds_end": null,
"cds_length": 525,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948862.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618921.1",
"strand": true,
"transcript": "ENST00000948862.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 144,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 196,
"cds_end": null,
"cds_length": 435,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363599.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350528.1",
"strand": true,
"transcript": "NM_001363599.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 144,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 797,
"cdna_start": 183,
"cds_end": null,
"cds_length": 435,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533861.5",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.166C>A",
"hgvs_p": "p.Arg56Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433055.1",
"strand": true,
"transcript": "ENST00000533861.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 829,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892245.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.120-10C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562304.1",
"strand": true,
"transcript": "ENST00000892245.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 184,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 756,
"cdna_start": null,
"cds_end": null,
"cds_length": 555,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892246.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.97-34C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562305.1",
"strand": true,
"transcript": "ENST00000892246.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": null,
"cds_end": null,
"cds_length": 519,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948863.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.120-95C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618922.1",
"strand": true,
"transcript": "ENST00000948863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363601.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.120-200C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350530.1",
"strand": true,
"transcript": "NM_001363601.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892242.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.120-200C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562301.1",
"strand": true,
"transcript": "ENST00000892242.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528367.1",
"gene_hgnc_id": 28464,
"gene_symbol": "TMEM223",
"hgvs_c": "c.313+2587G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431804.1",
"strand": false,
"transcript": "ENST00000528367.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 85,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 641,
"cdna_start": null,
"cds_end": null,
"cds_length": 258,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948861.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "c.97-794C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618920.1",
"strand": true,
"transcript": "ENST00000948861.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": null,
"cds_end": null,
"cds_length": 414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427579.1",
"gene_hgnc_id": 28464,
"gene_symbol": "TMEM223",
"hgvs_c": "c.316+2587G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283535.1",
"strand": false,
"transcript": "XM_047427579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 709,
"cdna_start": null,
"cds_end": null,
"cds_length": 414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427580.1",
"gene_hgnc_id": 28464,
"gene_symbol": "TMEM223",
"hgvs_c": "c.316+2587G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283536.1",
"strand": false,
"transcript": "XM_047427580.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 698,
"cdna_start": null,
"cds_end": null,
"cds_length": 414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427581.1",
"gene_hgnc_id": 28464,
"gene_symbol": "TMEM223",
"hgvs_c": "c.316+2587G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283537.1",
"strand": false,
"transcript": "XM_047427581.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000532345.1",
"gene_hgnc_id": 33744,
"gene_symbol": "TMEM179B",
"hgvs_c": "n.33C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000532345.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527073.1",
"gene_hgnc_id": 28464,
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