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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: 16-15600469-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15600469&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15600469,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014647.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ser1591Leu",
"transcript": "NM_014647.4",
"protein_id": "NP_055462.2",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "ENST00000396368.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ser1591Leu",
"transcript": "ENST00000396368.8",
"protein_id": "ENSP00000379654.3",
"transcript_support_level": 1,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "NM_014647.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ser1591Leu",
"transcript": "ENST00000551742.5",
"protein_id": "ENSP00000450309.1",
"transcript_support_level": 1,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4921,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4763C>T",
"hgvs_p": "p.Ser1588Leu",
"transcript": "ENST00000548025.5",
"protein_id": "ENSP00000449376.1",
"transcript_support_level": 1,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4763,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 4912,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ser1591Leu",
"transcript": "NM_001184998.2",
"protein_id": "NP_001171927.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4763C>T",
"hgvs_p": "p.Ser1588Leu",
"transcript": "NM_001184999.2",
"protein_id": "NP_001171928.1",
"transcript_support_level": null,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4763,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 4958,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4277C>T",
"hgvs_p": "p.Ser1426Leu",
"transcript": "ENST00000540441.6",
"protein_id": "ENSP00000439819.2",
"transcript_support_level": 5,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4277,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4342,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4775C>T",
"hgvs_p": "p.Ser1592Leu",
"transcript": "XM_005255704.2",
"protein_id": "XP_005255761.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4775,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 4970,
"cdna_end": null,
"cdna_length": 7733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4775C>T",
"hgvs_p": "p.Ser1592Leu",
"transcript": "XM_017023900.3",
"protein_id": "XP_016879389.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4775,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 4997,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ser1591Leu",
"transcript": "XM_017023901.3",
"protein_id": "XP_016879390.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4994,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ser1591Leu",
"transcript": "XM_047434938.1",
"protein_id": "XP_047290894.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 4994,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4769C>T",
"hgvs_p": "p.Ser1590Leu",
"transcript": "XM_005255706.3",
"protein_id": "XP_005255763.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4769,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 4964,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4769C>T",
"hgvs_p": "p.Ser1590Leu",
"transcript": "XM_047434939.1",
"protein_id": "XP_047290895.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4769,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 4991,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4745C>T",
"hgvs_p": "p.Ser1582Leu",
"transcript": "XM_005255707.3",
"protein_id": "XP_005255764.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
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"cds_start": 4745,
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"cds_length": 5202,
"cdna_start": 4940,
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"cdna_length": 7703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4745C>T",
"hgvs_p": "p.Ser1582Leu",
"transcript": "XM_047434940.1",
"protein_id": "XP_047290896.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4745,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4742C>T",
"hgvs_p": "p.Ser1581Leu",
"transcript": "XM_047434941.1",
"protein_id": "XP_047290897.1",
"transcript_support_level": null,
"aa_start": 1581,
"aa_end": null,
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"cds_start": 4742,
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"cdna_start": 4937,
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"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4742C>T",
"hgvs_p": "p.Ser1581Leu",
"transcript": "XM_047434942.1",
"protein_id": "XP_047290898.1",
"transcript_support_level": null,
"aa_start": 1581,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4742,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4964,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4613C>T",
"hgvs_p": "p.Ser1538Leu",
"transcript": "XM_017023902.3",
"protein_id": "XP_016879391.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4613,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4808,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ser1537Leu",
"transcript": "XM_047434943.1",
"protein_id": "XP_047290899.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
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"cds_start": 4610,
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"cdna_start": 4805,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ser1537Leu",
"transcript": "XM_047434944.1",
"protein_id": "XP_047290900.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
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"cds_start": 4610,
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"cdna_start": 4832,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4346C>T",
"hgvs_p": "p.Ser1449Leu",
"transcript": "XM_017023903.3",
"protein_id": "XP_016879392.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1600,
"cds_start": 4346,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 7304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4343C>T",
"hgvs_p": "p.Ser1448Leu",
"transcript": "XM_017023904.3",
"protein_id": "XP_016879393.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4343,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 4538,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}