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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: 6-137207063-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137207063&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137207063,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367739.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Asn34Asp",
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 489,
"cds_start": 100,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Asn34Asp",
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 489,
"cds_start": 100,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-24A>G",
"hgvs_p": null,
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-24A>G",
"hgvs_p": null,
"transcript": "ENST00000644894.1",
"protein_id": "ENSP00000495272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-24A>G",
"hgvs_p": null,
"transcript": "ENST00000645753.1",
"protein_id": "ENSP00000495103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-24A>G",
"hgvs_p": null,
"transcript": "ENST00000647124.1",
"protein_id": "ENSP00000496549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-24A>G",
"hgvs_p": null,
"transcript": "ENST00000696693.1",
"protein_id": "ENSP00000512814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.43A>G",
"hgvs_p": "p.Asn15Asp",
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 470,
"cds_start": 43,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.43A>G",
"hgvs_p": "p.Asn15Asp",
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 470,
"cds_start": 43,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Asn34Asp",
"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 455,
"cds_start": 100,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Asn16Asp",
"transcript": "ENST00000696697.1",
"protein_id": "ENSP00000512818.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 436,
"cds_start": 46,
"cds_end": null,
"cds_length": 1313,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Asn34Asp",
"transcript": "ENST00000696695.1",
"protein_id": "ENSP00000512816.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 435,
"cds_start": 100,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Asn34Asp",
"transcript": "ENST00000696694.1",
"protein_id": "ENSP00000512815.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 257,
"cds_start": 100,
"cds_end": null,
"cds_length": 774,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Asn6Asp",
"transcript": "ENST00000696699.1",
"protein_id": "ENSP00000512820.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 167,
"cds_start": 16,
"cds_end": null,
"cds_length": 505,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "XM_006715470.4",
"protein_id": "XP_006715533.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "XM_011535793.3",
"protein_id": "XP_011534095.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "XM_011535794.2",
"protein_id": "XP_011534096.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Asn24Asp",
"transcript": "XM_047418726.1",
"protein_id": "XP_047274682.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 479,
"cds_start": 70,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.222A>G",
"hgvs_p": null,
"transcript": "ENST00000478333.1",
"protein_id": null,
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"aa_start": null,
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],
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{
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"verdict": "Likely_benign",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Disseminated atypical mycobacterial infection|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}