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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: 6-136361126-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136361126&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136361126,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198609.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527His",
"transcript": "NM_003980.6",
"protein_id": "NP_003971.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 749,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003980.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527His",
"transcript": "ENST00000354570.8",
"protein_id": "ENSP00000346581.2",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 749,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003980.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354570.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557His",
"transcript": "NM_001198609.2",
"protein_id": "NP_001185538.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 779,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198609.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557His",
"transcript": "NM_001388328.1",
"protein_id": "NP_001375257.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 779,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388328.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557His",
"transcript": "NM_001388329.1",
"protein_id": "NP_001375258.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 779,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388329.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557His",
"transcript": "NM_001388330.1",
"protein_id": "NP_001375259.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 779,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388330.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557His",
"transcript": "ENST00000617204.4",
"protein_id": "ENSP00000482335.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 779,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617204.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"transcript": "NM_001388331.1",
"protein_id": "NP_001375260.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 778,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388331.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"transcript": "ENST00000877105.1",
"protein_id": "ENSP00000547164.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 778,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877105.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "NM_001198608.3",
"protein_id": "NP_001185537.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 771,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198608.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "NM_001198614.2",
"protein_id": "NP_001185543.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 771,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198614.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "NM_001388332.1",
"protein_id": "NP_001375261.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 771,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388332.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "NM_001388333.1",
"protein_id": "NP_001375262.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 771,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388333.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "ENST00000454590.5",
"protein_id": "ENSP00000414712.1",
"transcript_support_level": 2,
"aa_start": 549,
"aa_end": null,
"aa_length": 771,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454590.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Arg535His",
"transcript": "NM_001388334.1",
"protein_id": "NP_001375263.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 757,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388334.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Arg535His",
"transcript": "ENST00000877103.1",
"protein_id": "ENSP00000547162.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 757,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877103.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534His",
"transcript": "NM_001388335.1",
"protein_id": "NP_001375264.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 756,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388335.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534His",
"transcript": "ENST00000938979.1",
"protein_id": "ENSP00000609038.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 756,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938979.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "ENST00000938977.1",
"protein_id": "ENSP00000609036.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 755,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938977.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527His",
"transcript": "ENST00000938976.1",
"protein_id": "ENSP00000609035.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 748,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938976.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1559G>A",
"hgvs_p": "p.Arg520His",
"transcript": "NM_001388336.1",
"protein_id": "NP_001375265.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 742,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388336.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7",
"gene_hgnc_id": 6869,
"hgvs_c": "c.1559G>A",
"hgvs_p": "p.Arg520His",
"transcript": "NM_001388337.1",
"protein_id": "NP_001375266.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 742,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388337.1"
},
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}