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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: 7-75954007-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75954007&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75954007,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000461988.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001395413.1",
"protein_id": "NP_001382342.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 677,
"cds_start": 6,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000461988.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000461988.6",
"protein_id": "ENSP00000419970.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 677,
"cds_start": 6,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_001395413.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001382655.3",
"protein_id": "NP_001369584.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 695,
"cds_start": 6,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.15A>T",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000706545.1",
"protein_id": "ENSP00000516443.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 680,
"cds_start": 15,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.15A>T",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000706546.1",
"protein_id": "ENSP00000516444.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 680,
"cds_start": 15,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.15A>T",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000706547.1",
"protein_id": "ENSP00000516445.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 680,
"cds_start": 15,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001367562.3",
"protein_id": "NP_001354491.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 677,
"cds_start": 6,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001382657.2",
"protein_id": "NP_001369586.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 677,
"cds_start": 6,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001382658.3",
"protein_id": "NP_001369587.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 677,
"cds_start": 6,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001382659.3",
"protein_id": "NP_001369588.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 677,
"cds_start": 6,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.15A>T",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000706544.1",
"protein_id": "ENSP00000516442.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 647,
"cds_start": 15,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000394893.5",
"protein_id": "ENSP00000378355.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 630,
"cds_start": 6,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "NM_001382662.3",
"protein_id": "NP_001369591.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 627,
"cds_start": 6,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000439963.5",
"protein_id": "ENSP00000390540.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 184,
"cds_start": 6,
"cds_end": null,
"cds_length": 556,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000414186.5",
"protein_id": "ENSP00000399327.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 168,
"cds_start": 6,
"cds_end": null,
"cds_length": 507,
"cdna_start": 47,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000432753.5",
"protein_id": "ENSP00000389409.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 162,
"cds_start": 6,
"cds_end": null,
"cds_length": 490,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000412521.5",
"protein_id": "ENSP00000409238.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 142,
"cds_start": 6,
"cds_end": null,
"cds_length": 430,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000453773.5",
"protein_id": "ENSP00000395813.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 136,
"cds_start": 6,
"cds_end": null,
"cds_length": 412,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000418341.1",
"protein_id": "ENSP00000389719.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 58,
"cds_start": 6,
"cds_end": null,
"cds_length": 179,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000449920.5",
"protein_id": "ENSP00000399556.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 58,
"cds_start": 6,
"cds_end": null,
"cds_length": 179,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly",
"transcript": "ENST00000421059.1",
"protein_id": "ENSP00000409881.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 35,
"cds_start": 6,
"cds_end": null,
"cds_length": 108,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.6A>T",
"hgvs_p": null,
"transcript": "ENST00000412064.6",
"protein_id": "ENSP00000404731.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.6A>T",
"hgvs_p": null,
"transcript": "ENST00000448410.5",
"protein_id": "ENSP00000399409.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
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},
{
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},
{
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "POR",
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"transcript": "ENST00000447222.5",
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}
],
"gene_symbol": "POR",
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"dbsnp": "rs10262966",
"frequency_reference_population": 0.0000025025306,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000207435,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.424,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000461988.6",
"gene_symbol": "POR",
"hgnc_id": 9208,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6A>T",
"hgvs_p": "p.Gly2Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}