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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: 6-150883407-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=150883407&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 150883407,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367321.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "NM_015440.5",
"protein_id": "NP_056255.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": "ENST00000367321.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "ENST00000367321.8",
"protein_id": "ENSP00000356290.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": "NM_015440.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "ENST00000367307.8",
"protein_id": "ENSP00000356276.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "NM_001242767.2",
"protein_id": "NP_001229696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": -4,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "ENST00000611279.4",
"protein_id": "ENSP00000478253.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": -4,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.344+521A>G",
"hgvs_p": null,
"transcript": "NM_001242768.2",
"protein_id": "NP_001229697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.344+521A>G",
"hgvs_p": null,
"transcript": "ENST00000618312.4",
"protein_id": "ENSP00000479539.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.344+521A>G",
"hgvs_p": null,
"transcript": "NM_001350486.1",
"protein_id": "NP_001337415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.212+521A>G",
"hgvs_p": null,
"transcript": "NM_001350492.2",
"protein_id": "NP_001337421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.212+521A>G",
"hgvs_p": null,
"transcript": "NM_001350493.1",
"protein_id": "NP_001337422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.212+521A>G",
"hgvs_p": null,
"transcript": "NM_001350487.2",
"protein_id": "NP_001337416.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
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"hgvs_c": "c.419+521A>G",
"hgvs_p": null,
"transcript": "ENST00000367308.8",
"protein_id": "ENSP00000356277.4",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "NM_001350488.3",
"protein_id": "NP_001337417.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
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"transcript": "NM_001242769.3",
"protein_id": "NP_001229698.1",
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},
{
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],
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"gene_symbol": "MTHFD1L",
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"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "NM_001350489.3",
"protein_id": "NP_001337418.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.212+521A>G",
"hgvs_p": null,
"transcript": "NM_001350491.3",
"protein_id": "NP_001337420.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
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"hgvs_c": "c.212+521A>G",
"hgvs_p": null,
"transcript": "ENST00000423867.2",
"protein_id": "ENSP00000400776.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "n.212+521A>G",
"hgvs_p": null,
"transcript": "ENST00000441122.5",
"protein_id": "ENSP00000407070.2",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
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"hgvs_c": "n.663+521A>G",
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"transcript": "NR_146719.2",
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},
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],
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"gene_symbol": "MTHFD1L",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "MTHFD1L",
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"transcript": "XM_047418609.1",
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},
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "XM_005266907.6",
"protein_id": "XP_005266964.1",
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"cdna_start": null,
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"biotype": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.542+521A>G",
"hgvs_p": null,
"transcript": "XM_017010702.3",
"protein_id": "XP_016866191.1",
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